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Journal Of Dermatological Case Reports[JOURNAL]

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Photoletter to the editor: Atypical primary cutaneous mucormycosis of the scalp.

García-Sepúlveda R, Navarrete-Solís J, Villanueva-Lozano H … +5 more , de J Treviño-Rangel R, González GM, Enríquez-Rojas J, Molina-Durazo J, Arenas-Guzmán R

J Dermatol Case Rep · 2017 Dec · PMID 29367872 · Full text

Mucormycosis of the scalp is a rare cutaneous presentation of the disease. It is also an unusual infection in children. We present the case of a 4-year-old girl with acute lymphoblastic leukemia, who presented with atypi... Mucormycosis of the scalp is a rare cutaneous presentation of the disease. It is also an unusual infection in children. We present the case of a 4-year-old girl with acute lymphoblastic leukemia, who presented with atypical cutaneous mucormycosis simulating an lesion. Risk factors for the infection are diabetes, neoplastic diseases, immunosuppression in organ transplant recipients, and neutropenia. The cutaneos forms have been associated with trauma, burns and surgical wounds. First line treatment is amphotericin B. Posaconazole was recently approved to treat invasive mucormycosis. Surgical removal of the infected tissue is indicated.

Rapid clearance of erythrodermic psoriasis with apremilast.

Papadavid E, Kokkalis G, Polyderas G … +2 more , Theodoropoulos K, Rigopoulos D

J Dermatol Case Rep · 2017 Dec · PMID 29367871 · Full text

BACKGROUND: Apremilast is a new immunomodulatory drug, a small molecule inhibitor of PDE4, which down-regulates the expression of multiple pro-inflammatory cytokines, such as tumor necrosis factor alpha, interleukin 17,... BACKGROUND: Apremilast is a new immunomodulatory drug, a small molecule inhibitor of PDE4, which down-regulates the expression of multiple pro-inflammatory cytokines, such as tumor necrosis factor alpha, interleukin 17, interleukin 23. MAIN OBSERVATIONS: We describe a case of a 54-year-old man with erythroderma in the course of psoriasis (PASI=49), with contraindications to other psoriasis therapies, in whom total clearance of skin lesions was achieved by day 20 after therapy with apremilast at a dose of 30 mg bid (ΔPASI = 100). The patient had a history of prior use of cyclosporine, methotrexate and adalimumab. His comorbidities included obesity, fatty liver and hypercholesterolemia. CONCLUSION: In this case of erythroderma in the course of psoriasis apremilast led to total clearance of all cutaneous lesions.

Epstein-Barr virus-related cutaneous necrotizing vasculitis in a girl heterozygous for factor V Leiden.

Guerriero C, Moretta G, Bersani G … +3 more , Valentini P, Gatto A, Rigante D

J Dermatol Case Rep · 2017 Dec · PMID 29367870 · Full text

BACKGROUND: Necrotizing vasculitides are basically characterized by vessel wall neutrophil infiltration and necrosis and they can occur as a primary process or secondary to an underlying disease. Although Henoch-Schönlei... BACKGROUND: Necrotizing vasculitides are basically characterized by vessel wall neutrophil infiltration and necrosis and they can occur as a primary process or secondary to an underlying disease. Although Henoch-Schönlein purpura (HSp) is the more frequent primary vasculitis in childhood, sometimes it has to be distinguished from other secondary vasculitides induced by infections, drugs, vaccines, or immune-mediated disorders. MAIN OBSERVATIONS: We report a case of a 14-year-old girl with cutaneous necrotizing vasculitis, appearing in the course of acute Epstein-Barr virus infection. Physical examination revealed highly aching erythematous-purple lesions with reticular edges localized on the back of feet. Pain was non-responsive to ibuprofen and required administration of tapentadol and pregabalin. The patient was also heterozygous for factor V Leiden that might have contributed to the development of cutaneous painful lesions. CONCLUSIONS: To our knowledge this is the first documented pediatric case of necrotizing vasculitis associated with acute EBV infection in a girl heterozygous for factor V Leiden. In this patient the severity of skin manifestations might have been influenced by the concomitant factor V Leiden, which gave rise to hypercoagulability and occlusive vasculopathy with markedly severe pain, a symptom rather infrequent in other childhood vasculitides.

Clinical profile of 300 men with facial hypermelanosis.

Gupta M, Mahajan VK

J Dermatol Case Rep · 2017 Dec · PMID 29367869 · Full text

BACKGROUND: Facial hypermelanosis is a significant cause of cosmetic disfigurement, social embarrassment and psychological morbidity affecting quality of life. OBJECTIVE: To study clinicoepidemlogic patterns of facial hy... BACKGROUND: Facial hypermelanosis is a significant cause of cosmetic disfigurement, social embarrassment and psychological morbidity affecting quality of life. OBJECTIVE: To study clinicoepidemlogic patterns of facial hypermelanoses among men. MATERIAL AND METHODS: Medical records of all adult males presenting with facial hypermelanoses were analyzed for this retrospective cross sectional study for demographic details, duration, cosmetic usage, sun exposure, drug intake, infections, systemic or cutaneous diseases, and family history of hypermelanotic dermatosis. Laboratory investigations and skin biopsy were performed when deemed necessary. RESULTS: These were 300 Indian men aged 18 to 74 (mean 37.35) years with 121 (40.3%) individuals aged 31-50 years. Various patterns of melasma in 230 (76.7%) patients were the major cause of facial hypermelanosis. Periorbital hypermelanosis was observed in 32 (10.7%), freckles and lentigens in 26 (8.7%), acanthosis nigricans in 12 (4%) and lichen planus pigmentosus in 10 (3.3%), pigmented cosmetic contact dermatitis in 7, and nevus of Ota in 6 persons. The 71 (30.8%) patients with melasma had a history of frequent sun exposure, 9 (3.9%) patients had systemic comorbidities. Family history of periorbital melanosis was present in 7 (21.8%), personal or family history of atopy in 5 (15.6%) patients. Acanthosis nigricans was associated with obesity in 9 (75%) of patients and with diabetes mellitus in 4 (33.3%) cases. CONCLUSIONS: Melasma, periorbital hypermelanosis, acanthosis nigricans and lichen planus pigmentosus remain the predominant causes for facial hypermelanosis in men.

Oral lichenoid lesions of the upper lip.

Georgakopoulou EA, Achtari MD

J Dermatol Case Rep · 2017 Mar · PMID 28539985 · Full text

BACKGROUND: Oral lichen planus is a chronic inflammatory disease of unknown etiology. It is characterized by notable heterogeneity in clinical presentation and behavior. MAIN OBSERVATIONS: We describe 3 patients with lic... BACKGROUND: Oral lichen planus is a chronic inflammatory disease of unknown etiology. It is characterized by notable heterogeneity in clinical presentation and behavior. MAIN OBSERVATIONS: We describe 3 patients with lichenoid lesions of the upper lip and upper anterior gingiva. These cases probably represent a clinical subtype of lichenoid lesions associated with microbial antigenicity and are characterized by persistency. All three patients had a long history of previous ineffective treatments and all three showed an excellent response to a combination of clarithromycin (2 x 250 mg/day) and prednisolone (15 mg/day). CONCLUSION: The combination of clarithromycin and prednisolone may be considered as an alternative intervention in patients with lichenoid lesions of the upper lip and upper anterior gingiva.

Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations.

Rato M, Monteiro AF, Parente J … +2 more , Aranha J, Tavares E

J Dermatol Case Rep · 2017 Mar · PMID 28539984 · Full text

INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However,... INTRODUCTION: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the gene () on chromosome 17p11.2. MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck. Skin biopsies revealed fibrofolliculomas. The clinical diagnosis of BHDS was corroborated by identification of new heterozygotic mutations in gene, in exon 6 (C.573_574delinsT) and in exon 9 (c.1015C>T), respectively. Computed tomography scan of the thorax and abdomen showed pulmonary cysts with no suspicious kidneys lesions, and, in the case of the second patient, a mass in left adrenal gland. Laparoscopic left adrenalectomy was performed and histopathological examination was compatible with a malignant perivascular epithelioid cell tumor. CONCLUSIONS: The presence of multiple fibrofolliculomas should raise the suspicion of BHDS. Patients with this syndrome, regardless of the detected mutation, should be carefully monitored to ensure that potentially serious disease-related conditions can be detected early.

"Clown nose" as first manifestation of squamous cell carcinoma of the lung.

Marcoval J, Martínez-Molina L, Bonfill-Ortí M … +1 more , Valentí-Medina F

J Dermatol Case Rep · 2017 Mar · PMID 28539983 · Full text

BACKGROUND: Skin metastases occur in 0.7% to 9% of all patients with cancer and are usually considered a late event in the evolution of most visceral carcinomas. The development of a nodular metastatic lesion on the nasa... BACKGROUND: Skin metastases occur in 0.7% to 9% of all patients with cancer and are usually considered a late event in the evolution of most visceral carcinomas. The development of a nodular metastatic lesion on the nasal tip is known as clown nose sign. MAIN OBSERVATION: We report a 64-year-old man that developed a nodular lesion on his nasal tip as first manifestation of squamous lung carcinoma. CONCLUSION: The biopsy of the cutaneous metastasis may be helpful to histopathologically confirm the suspected primary tumour avoiding invasive diagnostic procedures.

Misuse of topical corticosteroids on facial skin. A study of 200 patients.

Sharma R, Abrol S, Wani M

J Dermatol Case Rep · 2017 Mar · PMID 28539982 · Full text

BACKGROUND: Topical corticosteroids have become available as over the counter drugs and are widely misused for various conditions. OBJECTIVE: The aim of this study is to assess the clinical and epidemiological aspects of... BACKGROUND: Topical corticosteroids have become available as over the counter drugs and are widely misused for various conditions. OBJECTIVE: The aim of this study is to assess the clinical and epidemiological aspects of the unjustified use of topical corticosteroids for facial skin. METHODS: A total of 200 patients with facial dermatoses and topical corticosteroid misapplication daily over face for not less than 30 days were included in the study. This was a prospective study conducted in a tertiary care dermatology outpatient centre of the Jammu region. A detailed clinical history regarding topical corticosteroid use was taken and adverse effects analysed. RESULTS: A total of 166 patients were women and 34 were men. The predominant age was 31-40 years. A total of 170 patients (85%) were in the age group of 21-50 years. Duration of application was over 1 month up to 3 years, daily. Betamethasone or clobetasol ointments were used in 75 patients (37.5%) and momatasone was used in 15 patients (7.5%). Indication for using steroids were: general / cosmetic purposes (72 patients; 36.0%), acne (59; 29.5%), hyperpigmentation (41; 20.5%), tinea (6; 3%), undiagnosed dermatoses (28; 14.0%). The use of corticosteroids was attributed to the advice of pharmacists (69; 34.5%), friends and relatives (61; 30.5%), cosmetologists (22; 11.0%), non-dermatology physicians (30; 15.0%) and dermatologists (18; 9%). Adverse effects included acneiform lesions, telengiectasias, dyspigmentation, hypertrichosis, perioral dermatitis and tinea incognito. A total of 89 (44.5%) patients fulfilled the criteria of "topical steroid dependent face". These patients reported erythema, burning and itching on stopping the application of topical corticosteroids. CONCLUSION: In most cases the use prolonged use of topical corticosteroids on facial skin was recommended by non-professional persons. The adverse events ranged from transient to permanent. The results of this study underline the indispensable role of dermatology specialists in diagnosing and treating cutaneous disorders.

Bullous lichen planus - a review.

Liakopoulou A, Rallis E

J Dermatol Case Rep · 2017 Mar · PMID 28539981 · Full text

Bullous lichen planus is a rare variant of lichen planus. It is characterized by vesicles or bullae, which usually develop in the context of pre-existing LP lesions. It is often misdiagnosed and should be differentiated... Bullous lichen planus is a rare variant of lichen planus. It is characterized by vesicles or bullae, which usually develop in the context of pre-existing LP lesions. It is often misdiagnosed and should be differentiated from other subepidermal bullous diseases especially lichen planus pemphigoides. The diagnosis is based on clinical suspicion and is confirmed by histopathology and immunofluoresence. The clinical features of bullous lichen planus include typical lichen planus lesions, accompanied by the formation of bullae on the affected or perilesional skin. This is evident on histology, with alteration of the dermo-epidermal junction and intrabasal bullae as a consequence of extensive inflammation. The histologic features in conjunction with the negative immunofluoresence indicate that bullous lichen planus is a form of "hyper-reactive lichen planus" rather than a distinct entity. There is no standard treatment of bullous lichen planus. Topical and systemic corticosteroids, dapsone and acitretin have been described as effective choices.

Disseminated extrafacial rosacea with papulonecrotic lesions.

Demitsu T, Tsukahara R, Umemoto N … +7 more , Nakamura S, Nagashima K, Yamada T, Kakurai M, Tanaka Y, Kakehashi A, Miyata T

J Dermatol Case Rep · 2016 Dec · PMID 28435478 · Full text

BACKGROUND: Rosacea is a common skin disease and predominantly affects on the face of middle-aged women. It exceptionally occurs on the extrafacial areas such as ear, neck, axilla, and upper extremities, and has been rep... BACKGROUND: Rosacea is a common skin disease and predominantly affects on the face of middle-aged women. It exceptionally occurs on the extrafacial areas such as ear, neck, axilla, and upper extremities, and has been reported as disseminated rosacea. MAIN OBSERVATION: A 40-year-old Japanese female presented with one-month history of erythematous skin eruption with burning sensation on the face, neck, and upper limbs. Physical examination showed rosacea-like eruption on the face as well as multiple papules disseminated on the neck, forearms, and hands. These extrafacial lesions demonstrated papulonecrotic appearance. Bilateral conjunctiva showed marked hyperemic which was consistent with ocular rosacea. Corneal opacity was also seen. Histology of the umbilicated papule on the neck revealed necrobiotic granulomas around the hair follicle with transepidermal elimination. Another tiny solid papule on the forearm suggesting early lesion also demonstrated necrobiosis with palisading granuloma but no transepidermal elimination. Systemic administration of minocycline and topical tacrolimus therapy promptly improved the skin lesions. Topical application of fluorometholone in temporary addition with levofloxacin improved ocular involvement 12 weeks after her 1st visit. The clinical course of the skin lesion and ocular symptoms mostly correlated. Then, the skin lesion and ocular symptoms often relapsed. Rosacea uncommonly associates with the extrafacial involvement as disseminated rosacea. The present case is characterized by the disseminated papulonecrotic lesions of the extrafacial areas histologically showing transepidermal elimination of necrobiotic granulomas. CONCLUSIONS: Dermatologists should recognize that papulonecrotic lesions of the neck and upper extremities might be extrafacial rosacea when the patient has rosacea on the face.

Acrodermatitis enteropathica in a pair of twins.

Al Rashed A, Al Shehri M, Kaliyadan F

J Dermatol Case Rep · 2016 Dec · PMID 28435477 · Full text

BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsi... BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation. MAIN OBSERVATIONS: Four months old twins both females, first children of a non-consanguineous marriage. The twins were born at term, caesarian section, with no complications. Presented with erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet of 2-3 week duration. The lesions started around the same time for both children with a history of intermittent diarrhea, and hair loss. There were no nail changes or neurological deficit or myopathy. There was a history of recent weaning from breast milk and now both children on formula feeds, ragi, fruits. There was no other significant history of other medical problems in the patients or in their family. On examination, erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet was seen. Minimal diffuse alopecia was noted. Nails were normal. No other abnormalities were observed. Clinical diagnosis of acrodermatitis enteropathica was considered and confirmed by low zinc levels (repeated plasma zinc levels were below 0.6 mcg/ml). The twins were managed with zinc supplementation 1 mg/kg/day. A significant improvement was seen within two weeks. CONCLUSIONS: Early diagnosis of acrodermatitis enteropathica is essential for preventing complications. We report a rare case of typical clinical presentation of the disease developing simultaneously in twins.

Successful treatment of bullous lichen planus with acitretin monotherapy. Review of treatment options for bullous lichen planus and case report.

Rallis E, Liakopoulou A, Christodoulopoulos C … +1 more , Katoulis A

J Dermatol Case Rep · 2016 Dec · PMID 28435476 · Full text

BACKGROUND: Bullous lichen planus (BLP) is a rare variant of lichen planus, characterized by the development of vesicular and bullous lesions, of skin, nails, hair and/or mucosa. MAIN OBSERVATIONS: We present a case of 6... BACKGROUND: Bullous lichen planus (BLP) is a rare variant of lichen planus, characterized by the development of vesicular and bullous lesions, of skin, nails, hair and/or mucosa. MAIN OBSERVATIONS: We present a case of 63-year-old woman with BLP, unresponsive to previous therapies with topical corticosteroids, topical calcipotriol, antihistamines and oral cyclosporine (4 mg/kg/day for 4 months). She was already receiving treatment for arterial hypertension, hyperlipidemia, atrial fibrillation and uncontrolled diabetes mellitus. Acitretin was administered for 5 months with complete remission of BLP lesions and no major side effects. CONCLUSIONS: This is probably the first reported case of BLP treated with acitretin monotherapy. In this case acitretin was an efficacious and well-tolerated therapeutic option for BLP.

Linear and Bilateral Multinucleated Cell Angiohistiocytoma (MCAH).

Coco V, Guerriero C, Di Stefani A … +2 more , Pennacchia I, Peris K

J Dermatol Case Rep · 2016 Dec · PMID 28435475 · Full text

BACKGROUND: Multinucleated Cell Angiohistiocytoma (MCAH) is a rare disease, first described by Smith and Wilson Jones in 1985. Since then, less than 100 cases have been reported in the literature. Clinically it is charac... BACKGROUND: Multinucleated Cell Angiohistiocytoma (MCAH) is a rare disease, first described by Smith and Wilson Jones in 1985. Since then, less than 100 cases have been reported in the literature. Clinically it is characterized by papules or plaques arising from a specific anatomical area such as lower extremities, dorsum of the hands and face. Some generalized cases have been reported. MAIN OBSERVATIONS: We report a case of 77-year-old woman who presented with multiple itching. reddish to violaceous, flat to domed-shaped plaques on the lower legs with symmetrical and bilateral distribution along the saphena veins. On dermoscopy examination only a red-violaceous homogeneous area was visible. Histology showed remarkable proliferation of dilated small vessels in the upper and mid dermis and bizarre-shaped multinucleate giant cells with scalloped cytoplasm that were intermingled with numerous mononucleated spindle cells. Many mast cells containing the characteristic granules were also detected, often adjacent to the multinucleate cells. Based on the clinico-pathologic findings the diagnosis of MCAH was established. CONCLUSIONS: To our knowledge, this is the first documented case of MCAH with a bilateral and linear pattern disposed on the lower limbs, following the saphena veins. In this patient chronic trauma induced by ambulation might have contributed to development of the lesions.

Treatment of recalcitrant erosive oral lichen planus and desquamative gingivitis with oral apremilast.

AbuHilal M, Walsh S, Shear N

J Dermatol Case Rep · 2016 Nov · PMID 28400896 · Full text

BACKGROUND: Erosive oral lichen planus and desquamative gingivitis are uncommon but severe debilitating variants of oral lichen planus. Treatment of these presentations is difficult and challenging. MAIN OBSERVATION: A 4... BACKGROUND: Erosive oral lichen planus and desquamative gingivitis are uncommon but severe debilitating variants of oral lichen planus. Treatment of these presentations is difficult and challenging. MAIN OBSERVATION: A 44-year-old woman was referred to the dermatology clinic with chronic painful lichen planus-related gingivitis and buccal erosions. She has failed multiple treatments including topical clobetasol and tacrolimus, intralesional corticosteroids and several systemic and immunosuppressive agents. Following completion of three months of treatment with oral apremilast at a dose of 30 mg twice daily, significant improvement was noted in her disease activity. CONCLUSION: Oral apremilast may be a safe and effective treatment for erosive oral lichen planus.

Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

Sommer LL, Schnur RE, Heymann WR

J Dermatol Case Rep · 2016 Nov · PMID 28400895 · Full text

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyoma... BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported. MAIN OBSERVATIONS: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC. CONCLUSIONS: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions. However this observation has implications for careful and routine skin surveillance in patients with HLRCC for lesions other than cutaneous leiomyomata.

Surgical suturing-induced melanocytic nevi. A new type of eruptive melanocytic nevi?

Katoulis AC, Sgouros D, Argenziano G … +3 more , Rallis E, Panayiotides I, Rigopoulos D

J Dermatol Case Rep · 2016 Nov · PMID 28400894 · Full text

BACKGROUND: Nevogenesis is a complex process involving several pathogenetic mechanisms, including genetic factors, hormonal influences and UV-radiation. Trauma has been described as a triggering factor for an alternative... BACKGROUND: Nevogenesis is a complex process involving several pathogenetic mechanisms, including genetic factors, hormonal influences and UV-radiation. Trauma has been described as a triggering factor for an alternative pathway of nevogenesis. Eruptive melanocytic nevi (EMN), related either to immunosuppression or to blistering disorders, represent a special type of nevi probably induced by the disruption of the dermo-epidermal junction and consequent proliferation of quiescent pigment cells during re-epithelization. MAIN OBSERVATIONS: We report two patients with three melanocytic nevi that developed de novo along the direction of surgical suturing, following surgical operation for other reason. The lesions exhibited special dermoscopic characteristics and histology revealed features of acquired melanocytic nevi. CONCLUSIONS: Such cases may represent a new type of eruptive nevus, the surgical suturing-induced nevus, which should be included in the differential diagnosis of new pigmentation developing within a scar.

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Kyrova J, Kopeckova L, Buckova H … +5 more , Mrazova L, Vesely K, Hermanova M, Oslejskova H, Fajkusova L

J Dermatol Case Rep · 2016 Nov · PMID 28400893 · Full text

BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previ... BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. MAIN OBSERVATIONS: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement. CONCLUSION: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.

Enzalutamide induced acute generalized exanthematous pustulosis.

Alberto C, Konstantinou MP, Martinage C … +9 more , Casassa E, Tournier E, Bagheri H, Sibaud V, Mourey L, Mazereeuw-Hautier J, Meyer N, Paul C, Bulai Livideanu C

J Dermatol Case Rep · 2016 Nov · PMID 27900064 · Full text

INTRODUCTION: (Xtandi®) is a new potent inhibitor of the signaling pathway for the androgen receptor with a half-life of 5.8 days. It has been on the market for the treatment of metastatic castration-resistant prostate... INTRODUCTION: (Xtandi®) is a new potent inhibitor of the signaling pathway for the androgen receptor with a half-life of 5.8 days. It has been on the market for the treatment of metastatic castration-resistant prostate cancer since November 2013. OBJECTIVE: We report the first case of acute generalized exanthematous pustulosis (AGEP) induced by . OBSERVATION: A 62-year-old male patient with no significant medical history, was diagnosed in April 2014 with metastatic prostatic adenocarcinoma. In April 2015 the patient received a second line oral therapy with , 160 mg/day, coupled with a subcutaneous implant of 10.8 mg of , an agonist analog of natural luteinising hormone releasing hormone (LH-RH). Ten days after starting treatment and four days after introduction of first subcutaneous implant, the patient experienced an acute skin reaction. It is about of the plaques covered with widespread millimetric non-follicular pustules. Complete resolution of skin lesions occurred within four weeks. According to the AGEP validation score of the European Study of Severe Cutaneous Adverse Reactions, the total score in the current case was 7, interpreted as probable AGEP. According to criteria that assess adverse drug reactions, it was concluded that was responsible for this case of AGEP (suggestive imputation). CONCLUSIONS: Dermatologist can be confronted with adverse skin drug reactions attributable to new therapeutic molecules. The slow resolution of symptoms seems be due to the long half-life of .

Elephantiasis Nostras Verrucosa. Excision with full-thickness skin grafting of the penis, scrotum, and perineal area.

Judge N, Kilic A

J Dermatol Case Rep · 2016 Nov · PMID 27900063 · Full text

BACKGROUND: Elephantiasis nostras verrucosa is a rare cutaneous complication of chronic lymphatic obstruction. It is most commonly caused by bacterial infection, trauma, neoplasia, obesity, and venous stasis. MAIN OBSERV... BACKGROUND: Elephantiasis nostras verrucosa is a rare cutaneous complication of chronic lymphatic obstruction. It is most commonly caused by bacterial infection, trauma, neoplasia, obesity, and venous stasis. MAIN OBSERVATIONS: In this report, we describe a case of elephantiasis nostras verrucosa involving the scrotum and perineal area in a 32-year-old. The lesions were excised, and full-thickness skin grafting of the penis, scrotum, and perineal skin was performed. CONCLUSION: This case demonstrates the efficacy of excision with full-thickness skin grafting of the penis, scrotum, and perineal area in a patient with elephantiasis nostras verrucosa confined to the scrotum and perineal region.

Pyoderma gangrenosum with spleen involvement. Review of the literature and case report.

Cosgarea R, Senilă SC, Badea R … +1 more , Ungureanu L

J Dermatol Case Rep · 2016 Nov · PMID 27900062 · Full text

BACKGROUND: Pyoderma gangrenosum is a rare, ulcerative, destructive, non-infectious dermatologic disease and it is one clinical entity within the spectrum of neutrophilic dermatoses. Visceral involvement, manifesting as... BACKGROUND: Pyoderma gangrenosum is a rare, ulcerative, destructive, non-infectious dermatologic disease and it is one clinical entity within the spectrum of neutrophilic dermatoses. Visceral involvement, manifesting as sterile neutrophilic infiltrates in sites other than skin and, is infrequent. Splenic involvement is very rare. MAIN OBSERVATIONS: We present a case of a 58-year-old woman with pyoderma gangrenosum with spleen involvement and review all reports of similar cases.We have found nine reported cases, our case being the tenth. CONCLUSION: Our review showed that spleen involvement in the course of pyoderma gangrenosum can occur at any age. It is slightly more frequent in men. An underlying or associated neutrophilic disorder is present in almost half of the patients. Skin manifestations were usually present before splenic involvement. In most cases the disese responds well to glucocorticosteroids.
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