J Dermatol Case Rep
· 2012 Sep · PMID 23091584
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BACKGROUND: Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene. MAIN OBSERVATIONS: This is a case of a 18-year-old female with generalized blisters, e...BACKGROUND: Ichthyosis bullosa of Siemens (IBS) is a rare hyperkeratotic blistering condition caused by mutations in keratin 2e gene. MAIN OBSERVATIONS: This is a case of a 18-year-old female with generalized blisters, erosions and thickened skin since she was 3 months old. As she aged, there was decrease in development of blisters and erosions, with accompanying increase in severity of hyperkeratosis. Skin punch biopsy showed overlying basket weave hyperkeratosis and acanthosis, prominent vacuolization of the granular cell layer, and intraepidermal blisters with the split at the granular layer. The patient was treated with emollients, with marked improvement. CONCLUSIONS: Mutations in the different keratin genes have been shown to underlie a wide range of disorders of keratinization. Epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens are distinct disorders with mutations in different genes. Although molecular genetic testing should ideally be done for confirmation of diagnosis, ichthyosis bullosa of Siemens could be diagnosed in this patients based on key clinical characteristics.
Alhathlool A, Hein R, Andres C
… +2 more, Ring J, Eberlein B
J Dermatol Case Rep
· 2012 Sep · PMID 23091583
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BACKGROUND: Post-irradiation morphea (PIM) is an entity documented in the literature although still not mentioned in most of the dermatological textbooks with a frequency approximately 2 out of every 1000 patients who re...BACKGROUND: Post-irradiation morphea (PIM) is an entity documented in the literature although still not mentioned in most of the dermatological textbooks with a frequency approximately 2 out of every 1000 patients who received radiotherapy. Most of the cases are misdiagnosed as recurrent or metastatic carcinoma. MAIN OBSERVATIONS: We report on a 64-year-old woman who was treated with radiotherapy for breast cancer. Two years and eight months after the first dose of radiotherapy, she developed localized morphea in the irradiated area. CONCLUSION: We report on a new case with a literature review and discuss pathogenesis, treatment modalities and post irradiation subcutaneos reactions mimicking PIM. Around 54 cases of post-irradiation morphea (PIM) were identified in the literature.
Steiner UC, Trüeb RM, Schad K
… +4 more, Kamarashev J, Koch S, French LE, Hofbauer GF
J Dermatol Case Rep
· 2012 Sep · PMID 23091582
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BACKGROUND: Solid organ transplant recipients are at an increased risk for infections because of long-term immunosuppression to prevent graft rejection. Fungal infections with dermatophytes are a common cause of cutaneou...BACKGROUND: Solid organ transplant recipients are at an increased risk for infections because of long-term immunosuppression to prevent graft rejection. Fungal infections with dermatophytes are a common cause of cutaneous infections seen in organ transplant recipients and cutaneous dermatophyte infections may progress to Majocchi's granuloma. Itraconazole is an anti-fungal compound used for the treatment of infections of the skin, nails and mucous membranes. MAIN OBSERVATION: We report on a heart transplant recipient who developed widespread Trichophyton rubrum infection presenting as Majocchi's granuloma. Itraconazole treatment was complicated by drug interactions. Tricho-phyton rubrum infection progressed, while itraconazole treatment was varied in dose and delivery form. CONCLUSIONS: In patients with Trichophyton rubrum infections, refractory to itraconazole treatment, altered drug absorption or drug interactions has to be considered. Careful monitoring and adjustment of itraconazole is of vital importance.
Papadavid E, Dalamaga M, Kapniari I
… +7 more, Pantelidaki E, Papageorgiou S, Pappa V, Tsirigotis P, Dervenoulas I, Stavrianeas N, Rigopoulos D
J Dermatol Case Rep
· 2012 Sep · PMID 23091581
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BACKGROUND: Lobomycosis, also known as Jorge Lobo's disease, represents a rare chronic subcutaneous mycosis caused by the fungus Lacazia loboi, an organism that is found within lesions but has not been cultured to date....BACKGROUND: Lobomycosis, also known as Jorge Lobo's disease, represents a rare chronic subcutaneous mycosis caused by the fungus Lacazia loboi, an organism that is found within lesions but has not been cultured to date. The natural reservoir of L. loboi is unknown but it is believed to be aquatic, or associated with soil and vegetation. More than 550 human cases have been reported, especially in patients with a history of travel or residence in endemic areas (Central and South America, particularly Brazil) or in communities along rivers. MAIN OBSERVATIONS: We describe a 64-year-old Greek female farmer living in a coastal region, who presented with an erythematous plaque on her left inner thigh resembling a keloid. The diagnosis was based on the triad: 1) absence of fungal growth in cultures, 2) positive direct microscopic examination of the lesion and 3) histopathology, all consistent with lobomycosis. Particularly, skin biopsy showed deep cutaneous fungal infection with granulomatous reaction. Fungal cells were found inside giant cells. The fungi were thick-walled with some budding, isolated or in short chains. Dermal fibrosis was present. Our patient had a medical history of common variable immunodeficiency but no history of travel to South or Central America. She probably acquired this rare infection by injury during her agricultural works. CONCLUSION: Our case represents probably the first documented case of human lobomycosis in Southeastern Europe. This case is unusual due to the rarity of lobomycosis in Mediterranean countries, particularly in Southeastern Europe.
J Dermatol Case Rep
· 2012 Jun · PMID 22826725
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Trichotillomania (TTM) is an impulse-control disorder, in which patients chronically pull hair from the scalp and/or other sites. We herein report a 8-year-old male patient who developed TTM in the classical tonsure patt...Trichotillomania (TTM) is an impulse-control disorder, in which patients chronically pull hair from the scalp and/or other sites. We herein report a 8-year-old male patient who developed TTM in the classical tonsure pattern ("Friar Tuck" sign). The diagnosis was confirmed by trichoscopy, which showed decreased hair density, broken hairs with different shaft lengths, black dots, signs of hemorrhage, and an absence of exclamation mark hairs.
J Dermatol Case Rep
· 2012 Jun · PMID 22826724
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Diagnosis of psoriasis is usually established clinically, based on the characteristic morphology and distribution of lesions. However, cases of psoriasis with atypical presentation do exist. In this manuscript we report...Diagnosis of psoriasis is usually established clinically, based on the characteristic morphology and distribution of lesions. However, cases of psoriasis with atypical presentation do exist. In this manuscript we report and highlight the significant role of dermoscopy in the diagnosis of three clinically atypical and heterogeneous cases of psoriasis.
Lallas A, Sidiropoulos T, Lefaki I
… +3 more, Tzellos T, Sotiriou E, Apalla Z
J Dermatol Case Rep
· 2012 Jun · PMID 22826723
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Granuloma faciale (GF) is a rare benign inflammatory dermatosis that usually develops as a solitary brownish-red plaque on the face. It clinically mimics and is often misinterpreted as, sarcoidosis, lupus erythematosus,...Granuloma faciale (GF) is a rare benign inflammatory dermatosis that usually develops as a solitary brownish-red plaque on the face. It clinically mimics and is often misinterpreted as, sarcoidosis, lupus erythematosus, lupus vulgaris, lymphoma or basal cell carcinoma.Dermoscopy, which is valuable for evaluation and differentiation between malignant and benign skin tumors, allows better visualization of dermal vascular structures and color variations. In this context, it might serve as an adjuvant diagnostic tool in the differentiation of inflammatory disorders, too. In the current manuscript, we present the dermoscopic features observed in a lesion of GF and discuss them in correlation with the underlying histopathological alterations.
J Dermatol Case Rep
· 2012 Jun · PMID 22826722
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Involvement of tongue during the course of lichen sclerosus is extremely rare, with only five - to our knowledge - described cases in the English literature. We present clinical and dermoscopic findings of a female patie...Involvement of tongue during the course of lichen sclerosus is extremely rare, with only five - to our knowledge - described cases in the English literature. We present clinical and dermoscopic findings of a female patient who concomitantly developed genital, skin and oral lesions of lichen sclerosus. Tongue involvement consisted of a linear atrophic whitish plaque, strikingly mimicking "en coupe de sabre" scleroderma. Dermoscopic examination revealed a well demarcated, linear, dense, white, homogenous area, with papillae projections hardly seen in the affected area. Dermoscopy of lesions located on the trunk revealed whitish plaques with comedo-like openings in the center and an erythematous halo at the periphery. Since clinical differentiation of oral LS and other oral diseases appearing as white atrophic plaques is almost impossible without using histology, we believe that dermoscopy might represent an additional tool, contributing to the final diagnosis, and thus avoiding an ablative procedure at this site-sensitive localization.
Lourari S, Lamant L, Viraben R
… +2 more, Paul C, Meyer N
J Dermatol Case Rep
· 2012 Jun · PMID 22826721
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Blue nevus is an acquired benign melanocytic nevus that can undergo malignant transformation. We report a 70-year-old man who presented with a recently enlarged long-term blue nodule on his scalp. He reported onset of ne...Blue nevus is an acquired benign melanocytic nevus that can undergo malignant transformation. We report a 70-year-old man who presented with a recently enlarged long-term blue nodule on his scalp. He reported onset of new satellitosis around the lesion. Although clinically thought to be a malignant melanoma, histopathological, dermoscopic and reflectance confocal-microscopy examinations did not confirm this diagnosis.
Gündüz K, Günay U, Inanir I
… +2 more, Gençoğlan G, Temiz P
J Dermatol Case Rep
· 2012 Jun · PMID 22826720
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BACKGROUND: The classic Kaposi sarcoma is most common in the Mediterranean population over 50 years of age and presents with reddish-brown papules and nodules particularly on the lower limbs. Treatment depends on the cli...BACKGROUND: The classic Kaposi sarcoma is most common in the Mediterranean population over 50 years of age and presents with reddish-brown papules and nodules particularly on the lower limbs. Treatment depends on the clinical presentation and extension of lesions. Imiquimod is as an immune response modifier with antiangiogenic activity. MAIN OBSERVATIONS: We present a 74-year-old man with classic Kaposi sarcoma who had multiple, small, violaceous papules and nodules on the trunk and extremities with a history of 14 years. He complained particularly from plantar hyperkeratotic painful nodules. Treatment with imiquimod 5% cream under occlusion resulted with almost complete regression within 12 weeks. No local or systemic side effects were observed. CONCLUSIONS: Topical imiquimod was a safe and effective therapy in our patient with classic Kaposi sarcoma.
D'Errico A, Bonciani D, Bonciolini V
… +4 more, Verdelli A, Antiga E, Fabbri P, Caproni M
J Dermatol Case Rep
· 2012 Jun · PMID 22826719
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BACKGROUND: Hailey-Hailey disease (HHD) is a chronic, recurrent blistering disorder characterized clinically by erosions occurring primarily in intertriginous regions and histologically by suprabasal acantholysis. MAIN O...BACKGROUND: Hailey-Hailey disease (HHD) is a chronic, recurrent blistering disorder characterized clinically by erosions occurring primarily in intertriginous regions and histologically by suprabasal acantholysis. MAIN OBSERVATIONS: We report a long standing case of HHD initially unresponsive to cyclosporin, multiple topical and systemic steroids. Good response was achieved with methotrexate 7,5 mg weekly for 16 week, intramuscularly, and topical steroids as needed. CONCLUSION: In conclusion, we suggest that methotrexate could be considered a therapeutic option for the treatment of HHD and in particular as a maintaining therapy to control the disease flares.
J Dermatol Case Rep
· 2012 Jun · PMID 22826718
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BACKGROUND: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein α 1 (GJA1) gene which encodes connexion 43. ODD...BACKGROUND: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein α 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. OBJECTIVES: To study the Molecular Genetics of Oculodentodigital syndrome. PATIENTS/MATERIALS AND METHODS: Our current study includes a Pakistani family affected with ODD. Clinical evaluation revealed that this family shows typical form of ODD with Syndactyly type III. Mutations in GJA1 have been reported in ODD and also in syndactyly type III. In this study we sequenced the coding exons of GJA1 gene in affected and normal individuals of the family for mutation detection. RESULTS: Direct sequencing of the affected individuals showed a mutation at the nucleotide position 389 T>C. This mutation changed the codon 130 from Isoleucine to Threonine. Normal family members did not show this mutation. CONCLUSION: Our study showed no gross neurological upset with I130T mutation in GJA1 gene. This may present novel phenotypic outcome with the I130T. The study will help in better understanding of pathophysiology of oculodentodigital syndrome and type III syndactyly.
Rokunohe D, Akasaka E, Rokunohe A
… +6 more, Kaneko T, Matsuzaki Y, Takiyoshi N, Aizu T, Nakano H, Sawamura D
J Dermatol Case Rep
· 2012 Jun · PMID 22826717
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BACKGROUND: Aplasia cutis congenita (ACC) is a congenital absence of skin, and a single alopecic lesion on the scalp is the most common form. MAIN OBSERVATION: We present a case of ACC with tetralogy of Fallot-A. Differe...BACKGROUND: Aplasia cutis congenita (ACC) is a congenital absence of skin, and a single alopecic lesion on the scalp is the most common form. MAIN OBSERVATION: We present a case of ACC with tetralogy of Fallot-A. Differetial diagnosis included Adams-Oliver syndrome and nevus psiloliparus. Interestingly, our patient showed multiple ACC lesions, which were located along Blaschko's lines. CONCLUSIONS: As far as we know, our case is the third case of ACC with tetralogy of Fallot-A. Also, this is the first case of ACC associated with Blaschko's lines.
J Dermatol Case Rep
· 2012 Jun · PMID 22826716
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BACKGROUND: Atypical forms of pityriasis rosea are often noticed in Indian children. MAIN OBSERVATIONS: We describe a 9-year-old male child with predominant follicular eruptions on trunk consistent with a clinical diagno...BACKGROUND: Atypical forms of pityriasis rosea are often noticed in Indian children. MAIN OBSERVATIONS: We describe a 9-year-old male child with predominant follicular eruptions on trunk consistent with a clinical diagnosis of pityriasis rosea. CONCLUSION: Follicular pityriasis rosea is an extremely rare presentation of the disease. We propose a new classification of clinical variants of pityriasis rosea.
J Dermatol Case Rep
· 2012 Mar · PMID 22514589
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Pyoderma gangrenosum is an uncommon ulcerative cutaneous condition of uncertain aetiology. It is a disease that causes tissue to become necrotic, leading to deep ulcers. We report a case of pyoderma gangrenosum localized...Pyoderma gangrenosum is an uncommon ulcerative cutaneous condition of uncertain aetiology. It is a disease that causes tissue to become necrotic, leading to deep ulcers. We report a case of pyoderma gangrenosum localized at the scalp, which is an unusual location. After 16 months of treatment with prednisolone 40 mg daily, methotrexate 15 mg weekly, ciprofloxacin 500 mg and honey dressing the indurated elevated ulcer margins flattened and the ulcer healed with scarring of the entire scalp.
Masmoudi A, Marrakchi S, Kamoun H
… +6 more, Chaaben H, Ben Salah G, Ben Salah R, Fakhfakh F, Zahaf A, Turki H
J Dermatol Case Rep
· 2012 Mar · PMID 22514588
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UNLABELLED: Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this...UNLABELLED: Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years. RESULTS: Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. CONCLUSION: Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.
J Dermatol Case Rep
· 2012 Mar · PMID 22514587
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BACKGROUND: Adams-Oliver Syndrome is characterized by the combination of aplasia cutis congenita and limb anomalies. It was initially described in 1945 by Adams and Oliver. MAIN OBSERVATIONS: We report a case of a 10-yea...BACKGROUND: Adams-Oliver Syndrome is characterized by the combination of aplasia cutis congenita and limb anomalies. It was initially described in 1945 by Adams and Oliver. MAIN OBSERVATIONS: We report a case of a 10-year-old girl with Adams-Oliver Syndrome with aplasia cutis congenita and limb defects only with no internal organ anomalies. CONCLUSIONS: Adams-Oliver Syndrome is a rare multisystem disorder of unknown etiology. It may be presented by isolated aplasia cutis congenita and limb anomalies.
Marya CM, Sharma G, Parashar VP
… +1 more, Dahiya V
J Dermatol Case Rep
· 2012 Mar · PMID 22514586
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BACKGROUND: Therapeutic drugs have been observed to cause a wide spectrum of adverse oral effects such as dry mouth, gingival enlargement, taste disturbance, oral mucosal ulceration, halitosis, etc. OBSERVATIONS: A rare...BACKGROUND: Therapeutic drugs have been observed to cause a wide spectrum of adverse oral effects such as dry mouth, gingival enlargement, taste disturbance, oral mucosal ulceration, halitosis, etc. OBSERVATIONS: A rare case of intra-oral fixed drug eruption (FDE) induced by ornidazole presenting on the hard palate, an extremely rare site for FDE, in a 40-year-old male is reported. CONCLUSIONS: Ornidazole is a relatively newer 5-nitroimidazole derivative commonly prescribed for Amoebic dysentery in developing countries. FDE is a rare adverse drug effect characterized by onset of round/oval, erythematous macules on the skin or mucosa that can be associated with itching and burning sensation. The exact mechanism causing FDE is unknown.
Piraccini BM, Alessandrini A, Bruni F
… +1 more, Starace M
J Dermatol Case Rep
· 2012 Mar · PMID 22514585
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BACKGROUND: Urea containing topical products are extensively marked for treatment of nail diseases. Side effects are rare and mainly include irritation of the periungual skin, when topicals with high urea concentration a...BACKGROUND: Urea containing topical products are extensively marked for treatment of nail diseases. Side effects are rare and mainly include irritation of the periungual skin, when topicals with high urea concentration are applied too widely on the digit, or covered by tape. MAIN OBSERVATION: We report a case of a 84-year-old man with an erosive-bullous eruption of the 1st and the 2nd left toes due to application of an urea-containing cream, that he had regularly applied every night covering the digit with a plastic bandage. Suspecting an allergic contact dermatitis, we performed patch test with the Italian Standard series called SIDAPA and the product (Xérial 50 Extrême cream®) itself. Patch test readings showed a positive reaction to colophony contained in the plastic band and to the cream. CONCLUSION: Our case is the first report of allergic contact dermatitis to a cream containing a high concentration urea utilized for treatment of nail thickening under occlusion.
J Dermatol Case Rep
· 2012 Mar · PMID 22514584
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BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor that arises in the dermis and is characterised by latency in its initial detection. As a rare form, atrophic or morphea-like D...BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor that arises in the dermis and is characterised by latency in its initial detection. As a rare form, atrophic or morphea-like DFSP has been documented. Atrophic DFSP resemble other benign lesions such as morphea, idiopathic atrophoderma, atrophic scar, anetoderma or lipoatrophy. It behaves like classic DFSP. It commonly favours young to middle aged adults. It has a slow infiltrative growth and a high rate of local recurrence if not completely excised. Metastases are rare and occur after repeated local recurrence. Surgical excision is the best line of treatment. Long term follow up is required to detect recurrence. MAIN OBSERVATIONS: We report a case of atrophic DFSP in a 52-year-old female patient. Diagnosis was achieved according to clinical, histopathological and immunohistochemical findings. Tumor was surgically excised with safety margin and the patient is still under follow up. CONCLUSIONS: Atrophic DFSP is a rare variant of DFSP. It is a tumor of low to moderate grade malignancy. Surgical excision is the best line of management. Long term follow up is necessary.