J Dermatol Case Rep
· 2014 Mar · PMID 24748909
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BACKGROUND: Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like mat...BACKGROUND: Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs. MAIN OBSERVATION: We report two cases of lipoid proteinosis. A 2-year-old girl presented with vesiculobullous skin lesions on her face, trunk, extremities and scalp, inability to protrude the tongue and hoarseness of voice that appeared few months after birth. The other case is a 4-year-old girl, who presented with waxy papules on face and trunk, hoarseness of voice and enlarged lips and tongue. The lesions healed leaving pitted scars in both cases. Based on clinical, histopathological and laryngoscopy findings, lipoid proteinosis was diagnosed in both cases. Acitretin was started in a dose of 0.5 mg/kg/day in every child. Complete remission of cutaneous lesions and improvement of the hoarseness was observed after one year. CONCLUSION: Acitretin may be benificial for treatment of mucosal and cutaneous lesions in lipoid proteinosis.
Attaway A, Mersfelder TL, Vaishnav S
… +1 more, Baker JK
J Dermatol Case Rep
· 2014 Mar · PMID 24748908
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BACKGROUND: Bullous pemphigoid is a cutaneous autoimmune blistering disorder. The etiology for what precipitates this disease is not entirely clear at this point, although it has been associated with certain medications....BACKGROUND: Bullous pemphigoid is a cutaneous autoimmune blistering disorder. The etiology for what precipitates this disease is not entirely clear at this point, although it has been associated with certain medications. MAIN OBSERVATION: We describe the case of a 70-year-old male with a past medical history of diabetes type 2 who developed a diffuse eruption of bullae with skin biopsy positive for bullous pemphigoid. He had previously been prescribed sitagliptin 50 mg daily for at least one year prior to onset of his disease. The medication was discontinued and the patient was treated with first IV and then oral steroids with good clinical outcome. There have been a few reports that have explored the relationship between DPP-IV inhibitors (gliptins) and bullous pemphigoid, including three case series and a report on sitagliptin associated allergic skin reactions submitted to the Adverse Event Reports System database of the FDA. According to the Naranjo ADR probability score there is a "possible" cause and effect relationship for this case. CONCLUSION: The enzyme DPP-IV is ubiquitously expressed in almost every organ system, including the skin. The exact mechanism at this time is unknown but is believed to be multifactorial involving many aspects of the immune system. Our case and the findings from our literature review further demonstrate a link between dipeptidyl peptidase-IV inhibitors and the development of bullous pemphigoid.
J Dermatol Case Rep
· 2014 Mar · PMID 24748907
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BACKGROUND: Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases as...BACKGROUND: Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases associated with disturbed blood flow a correlation between cause and effect is often diagnosed inappropriately. As a consequence, chronic wounds may develop and persist for years. MAIN OBSERVATIONS: We present a case of a patient with chronic venous insufficiency due to an occlusion of the inferior caval vein. Initially, a Budd-Chiari syndrome was diagnosed which is a thrombotic obstruction of the hepatic venous outflow. In addition, the patient developed an obstruction of the inferior caval vein and subsequently a chronic venous insufficiency. As a consequence, chronic leg ulcers developed with a history of more than 7 years. Various wound care approaches were performed without success in wound closure. Finally, a combination of compression therapy and topical application of a hemoglobin solution successfully led to fast and persistent wound closure. CONCLUSIONS: Chronic ulcers of the lower limb such as venous leg ulcers, even for patients with rare disorders like Budd-Chiari syndrome, are associated with oxygen supply disturbances resulting in a hypoxic status of the affected tissue. Therefore, an adequate oxygen supply to chronic wounds plays a pivotal role in successful wound healing. Compression therapy in combination with enhancement of the local oxygen supply by topically applied hemoglobin showed marked improvement of wound healing in the presented patient.
Nakamura S, Hashimoto Y, Nishi K
… +3 more, Mizumoto T, Takahashi H, Iizuka H
J Dermatol Case Rep
· 2014 Mar · PMID 24748906
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BACKGROUND: Cutaneous adverse events associated with the use of epidermal growth factor receptor inhibitors, such as cetuximab are relatively common. Although there are reports about possible treatments for acne or acnei...BACKGROUND: Cutaneous adverse events associated with the use of epidermal growth factor receptor inhibitors, such as cetuximab are relatively common. Although there are reports about possible treatments for acne or acneiform lesions induced by cetuximab, there are only few reports of prospective studies. OBJECTIVE: The aim of the study was to analyze the efficacy of varius treatment modalities and their combinations in patients with acneiform eruptions caused by cetuximab. PATIENTS AND METHODS: We studied 14 patients treated with an epidermal growth factor receptor inhibitors, including 7 patients cetuximab, who developed acneiform eruptions in the course of therapy. All patients were diagnosed as grade II according to the Common Terminology Criteria for Adverse Events (CTCAE) v4.0. A corticosteroid ointment, tacrolimus ointment, and ketoconazole ointment were used in a randomized manner. Oral therapy included administration of antihistaminic drugs, tetracycline, a cyclooxygenase inhibitor, or a macrolide. We measured the numer of days required to achieve improvement from grade II to grade I during cetuximab treatment. RESULTS: Our results showed that tetracycline treatment may shorten the period needed to achieve improvement. Ketoconazole cream and a combination of oral tetracycline and topical ketoconazole also significantly shortened this period. CONCLUSION: The results of our short case study may indicate that a combitation therapy of oral tetracyclin and topical ketokonazole is most effective in the therapy of patients with acneiform eruptions caused by cetuximab.
González-Sabín M, Almagro-Sánchez M, Iglesias-Conde R
… +1 more, Felgueiras-Magalhaes JL
J Dermatol Case Rep
· 2014 Mar · PMID 24748905
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BACKGROUND: Oleoma is defined as a foreign body granuloma resulting from the injection of oily substances into the skin or subcutaneous tissue. Liquid injectable silicone has been used extensively over the last five deca...BACKGROUND: Oleoma is defined as a foreign body granuloma resulting from the injection of oily substances into the skin or subcutaneous tissue. Liquid injectable silicone has been used extensively over the last five decades for soft tissue augmentation. Although initially considered as a biologically inert material, it has been implicated in a variety of adverse reactions, sometimes with latent periods of decades. MAIN OBSERVATIONS: We describe the case of a 44-year-old Peruvian woman presenting with multiple painless yellowish papules and plaques limited to the lower half of the breasts, that seemed to be cutaneous xanthomas. A skin biopsy showed granulomatous inflammation with multiple clear vacuoles corresponding to injected liquid silicone particles, diagnosed as oleoma. The patient was then re-evaluated and she reported that she underwent breast augmentation by injection of liquid silicone five prior to presentation in our department. Thus, the diagnosis of oleoma was confirmed. CONCLUSIONS: We describe a case with yellowish papules on both breasts in a woman that underwent breast augmentation by injection of liquid silicone. Since this unusual presentation of oleomas can be confused with cutaneous xanthomas, a biopsy is essential for diagnosis.
Rabelo DF, Nguyen T, Caufield BA
… +1 more, Ahmed AR
J Dermatol Case Rep
· 2014 Mar · PMID 24748904
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BACKGROUND: Mucous membrane pemphigoid (MMP) is a subepithelial autoimmune mucocutaneous disease. It most frequently affects the oral mucosa, followed by ocular and nasal mucosa, nasopharyngeal, anogenital, skin, larynge...BACKGROUND: Mucous membrane pemphigoid (MMP) is a subepithelial autoimmune mucocutaneous disease. It most frequently affects the oral mucosa, followed by ocular and nasal mucosa, nasopharyngeal, anogenital, skin, laryngeal and esophageal mucosa. MAIN OBSERVATION: Two half-sisters developed mucous membrane pemphigoid at approximately the same age. The older sister presented with primarily mucosal disease, while the younger had a more cutaneous disease. The histopathology demonstrated a subepithelial blister and direct immunofluorescence showed deposition of IgG and C3 at the basement membrane zone of perilesional tissues in both sisters. Antibodies to human β4 integrin were present in the sera of both patients and correlated with disease activity. Both sisters carried the same HLADQβ1* 0301 allele. CONCLUSIONS: This is the first case of mucous membrane pemphigoid occurring in two half-sisters. Perhaps, it is the low incidence of mucous membrane pemphigoid that may account for the lack of reports on familial cases of the disease.
J Dermatol Case Rep
· 2014 Mar · PMID 24748903
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Over the past few years melanoma has grown into a disease of socio-economic importance due to the increasing incidence and persistently high mortality rates. Melanoma is a malignant tumor with a high tendency to metastas...Over the past few years melanoma has grown into a disease of socio-economic importance due to the increasing incidence and persistently high mortality rates. Melanoma is a malignant tumor with a high tendency to metastasize. Therefore, an extremely important part of the therapeutic process is to identify the disease at an early stage: in situ or stage I. Many tools for early diagnosis of melanoma are available today, including dermoscopy, videodermoscopy and in vivo reflectance confocal microscopy. Other methods such as high frequency ultrasound, optical coherence tomography and electrical impedance spectroscopy may serve as additional diagnostic aids. Modern imaging techniques also allow the monitoring of melanocytic skin lesions over months or years to detect the moment of malignant transformation. This review summarizes the current knowledge about modern diagnostic techniques, which may aid early diagnosis of melanoma.
Sarkar D, Kammona HA, Lamsen LN
… +4 more, McAbee BA, Clark CT, Lee SS, Kelley SE
J Dermatol Case Rep
· 2013 · PMID 24421868
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Diffuse purpura is an uncommon skin manifestation found in platelet and coagulation disorders, meningococcemia, vasculitides and cocaine use. Reports of cocaine-related purpura predominantly involve adulteration with the...Diffuse purpura is an uncommon skin manifestation found in platelet and coagulation disorders, meningococcemia, vasculitides and cocaine use. Reports of cocaine-related purpura predominantly involve adulteration with the anti-helminthic, levamisole. Levamisole enhances the effects of cocaine and is known to cause vasculitis. Recently, the CDC also released an advisory of oxymorphone being used intravenously causing thrombogenic thrombocytopenic purpura (TTP). We report the case of a patient with diffuse purpura ultimately diagnosed with cocaine-related thrombogenic vasculopathy. In the current environment of adulterated cocaine usage and increased prescription narcotic abuse, it is crucial to investigate substance abuse as a cause of diffuse purpura.
J Dermatol Case Rep
· 2013 · PMID 24421867
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BACKGROUND: Circumscribed palmar or plantar hypokeratosis defines a benign condition clinically presented as a well-defined depressed area on the skin. It is characterized by a peculiar histopathological picture with the...BACKGROUND: Circumscribed palmar or plantar hypokeratosis defines a benign condition clinically presented as a well-defined depressed area on the skin. It is characterized by a peculiar histopathological picture with the abrupt thinning of the horny layer of the epidermis. MAIN OBSERVATIONS: We present a case of a 17-year-old man, who presented with a one-year history of an occasionally painful lesion on his right sole. The diagnosis of circumscribed plantar hypokeratosis was confirmed by histopathology. The lesion was successfully treated with calcipotriol ointment. CONCLUSIONS: Circumscribed palmar or plantar hypokeratosis is a benign condition that typically affects the hands. Different therapeutic approaches have been unsuccessful. In our patient the lesion was at a less frequent plantar location and the lesion responded to topical calcipotriol.
J Dermatol Case Rep
· 2013 · PMID 24421866
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BACKGROUND: The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the...BACKGROUND: The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. MAIN OBSERVATIONS: We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. CONCLUSION: This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.
J Dermatol Case Rep
· 2013 · PMID 24421865
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BACKGROUND: Dermatofibrosarcoma protuberans is a rare mesenchymal malignancy in childhood and adolescence. The tumor is characterized by dermal spindle cell proliferation with infiltration of subcutaneous tissue, express...BACKGROUND: Dermatofibrosarcoma protuberans is a rare mesenchymal malignancy in childhood and adolescence. The tumor is characterized by dermal spindle cell proliferation with infiltration of subcutaneous tissue, expression of CD34, and a specific fusion of the platelet-derived growth factor beta with the collagen type 1alpha1 gene. MAIN OBSERVATION: We observed a 10-year-old girl with a medaillon-like, asymptomatic plaque on the chest that was diagnosed as DSFP. The tumor was completely removed by delayed Mohs surgery. Follow-up so far has shown a complete response. CONCLUSIONS: The prognosis of dermatofibrosarcoma protuberans in children is excellent as long as early diagnosis is followed by complete excision with Mohs surgery as a golden standard.
J Dermatol Case Rep
· 2013 · PMID 24421864
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BACKGROUND: Wells syndrome is an uncommon inflammatory dermatosis first described in 1971 by Wells. The clinical eruption is characterized by varying morphology and severity and usually follows a relapsing remitting cour...BACKGROUND: Wells syndrome is an uncommon inflammatory dermatosis first described in 1971 by Wells. The clinical eruption is characterized by varying morphology and severity and usually follows a relapsing remitting course. The majority of the reported cases are of unknown etiology, drug induced Wells syndrome has rarely been reported. A literature search using MEDLINE was performed. We recorded the features of our case and of the additional cases of drug induced Wells syndrome in the literature. MAIN OBSERVATIONS: Including our case there are 25 cases of drug-induced Wells syndrome reported. Causative drugs include antibiotics, anticholinergic agents, anaesthetics, non-steroidal anti-inflammatory agents, thyroid medications, chemotherapeutic agents, thiomersal containing vaccinations, anti-tumor necrosis factor agents and thiazide diuretics. CONCLUSIONS: To the authors knowledge this is the first reported case of drug-induced Wells syndrome from thiazide diuretics. The diagnosis of Wells syndrome is often controversial and we propose a set of diagnostic criteria.
J Dermatol Case Rep
· 2013 · PMID 24421863
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BACKGROUND: Dermatologic diseases vary widely as a result of geographic location, climate, socioeconomic status, and personal habits, and internal factors, such as age, gender, and heredity. OBJECTIVE: The aim of the stu...BACKGROUND: Dermatologic diseases vary widely as a result of geographic location, climate, socioeconomic status, and personal habits, and internal factors, such as age, gender, and heredity. OBJECTIVE: The aim of the study was to determine the main causes for outpatient visits in a dermatology outpatient clinic in Turkey. MATERIALS AND METHODS: The outpatient clinic records of the Dermatology Department of Eskisehir Yunus Emre Government Hospital, dated between 1 January 2011 and 1 January 2012, were retrospectively assessed. Patients were grouped according to age, gender and clinical diagnosis. RESULTS: A total of 11,040 new patients with 12,174 skin problems were included in the study. The study group was 55.7% female and 44.3% male. The age range was between 1 and 99 years. The most commonly encountered diseases were: acne (13.1% of patients), fungal infections (8.5%), contact dermatitis (8.5%), urticaria (8.3%), psoriasis (5.5%), viral warts (4.1%), lichen simplex chronicus (3.0%), callus, atopic dermatitis, and seborrheic dermatitis (2.2% each). CONCLUSIONS: It appears that certain skin diseases acne, fungal infections, contact dermatitis and urticarial cause serious health problems. Public health policies should be implemented in order to manage these problems rationally.
J Dermatol Case Rep
· 2013 · PMID 24133567
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Squamous cell carcinoma is a non-melanoma skin cancer with a significant risk of mortality if not diagnosed promptly. A high index of suspicion is required, since it may mimic many benign conditions. Molluscum contagiosu...Squamous cell carcinoma is a non-melanoma skin cancer with a significant risk of mortality if not diagnosed promptly. A high index of suspicion is required, since it may mimic many benign conditions. Molluscum contagiosum is an innocuous viral infection which can also mimic a wide variety of other conditions. We report a case of squamous cell carcinoma on the anterior chest wall resembling a giant molluscum contagiosum, where the patient also had molluscum contagiosum at other sites. In addition, he developed herpes zoster of the left fifth thoracic dermatome. After surgical removal of the cancer, there was prompt subsidence of the molluscum contagiosum lesions without any specific treatment. This report highlights the importance of early biopsy in the diagnosis of squamous cell carcinoma. As the patient had no other conditions or therapy that could account for the immunosuppression, we hypothesize that the occurrance of molluscum contagiosum and zoster along with the squamous cell carcinoma indicates possible immunosuppression due to the carcinoma, though no metastatic spread could be detected.
J Dermatol Case Rep
· 2013 · PMID 24133566
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We report a case of dermatitis herpetiformis co-localised with segmental vitiligo in a 37-year-old woman with a background history of autoimmune polyglandular syndrome type 2. We propose genetic mosaicism as a possible m...We report a case of dermatitis herpetiformis co-localised with segmental vitiligo in a 37-year-old woman with a background history of autoimmune polyglandular syndrome type 2. We propose genetic mosaicism as a possible mechanism. There has only been one previous case report in which dermatitis hepetiformis co-localised in close proximity but not exclusively within vilitigo in a patient with autoimmune thyroiditis. To our knowledge, this is the first case report of dermatitis herpetiformis co-localised exclusively to segmental vitiligo in the presence of autoimmune polyglandular syndrome.
Renteria AS, Marshall VA, Sun Y
… +4 more, Chockalingam P, Cooper JS, Huang Y, Whitby D
J Dermatol Case Rep
· 2013 · PMID 24133565
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BACKGROUND: Kaposi's sarcoma associated-herpesvirus causes all forms of Kaposi's sarcoma, and six major subtypes have been described based on the amino acid sequences of the open reading frame K1. MAIN OBSERVATION: A 71-...BACKGROUND: Kaposi's sarcoma associated-herpesvirus causes all forms of Kaposi's sarcoma, and six major subtypes have been described based on the amino acid sequences of the open reading frame K1. MAIN OBSERVATION: A 71-year-old man from China, HIV negative, presented with nodules on the dorsal aspect of his toes. Biopsy confirmed the diagnosis of Kaposi's sarcoma and virology studies of his blood and saliva confirmed the presence of Kaposi's sarcoma associated-herpesvirus infection. Viral genotyping was consistent with subtype C3. Intervention has been deferred as our patient has remained clinically asymptomatic and without evident growth of his lesions over a 2-year follow up. CONCLUSIONS: We herein report the first known case of Kaposi's sarcoma restricted to the toes caused by the viral subtype C3 in an HIV-negative patient from Harbin, China.
J Dermatol Case Rep
· 2013 · PMID 24133564
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BACKGROUND: Aplasia cutis congenita is a disorder of the skin embryonic development characterized by a defect of localized or widespread areas of skin at birth. The lesions are mostly oval, 1-3 cm in diameter, with local...BACKGROUND: Aplasia cutis congenita is a disorder of the skin embryonic development characterized by a defect of localized or widespread areas of skin at birth. The lesions are mostly oval, 1-3 cm in diameter, with localization on the parietal part of scalp (60%) and rarely on the face and extremities. MAIN OBSERVATIONS: Herein, we reported a case of aplasia cutis congenita termly born at 39 weeks of gestation to a 30-year-old mother with bronchial asthma attacks. She was referred for 3 punched-out punctate depressed defective lesions in 0.4 cm's diameter on the vertex covered with necrotic and hemorrhagic crusts. There was a hypertrichotic area consisting of tufts of terminal hair on the lumbosacral area over a sinus tract. Maternal perinatal drugs included aerosol salbutamol sulfate, ipratropium bromide and oral montelukast sodium for bronchial asthma. The pregnancy was firstly started as a di-chorionic, di-amniotic twin gestation, but deteriorated after the fetal resorption of the co-twin in the 20th gestational week resulting in fetus papyraceus. CONCLUSION: In multi-gestational pregnancies, the presence of the fetus papyraceus or the death of the co-twins should make the neonatologists and dermatologists be aware of the possible cutaneous defects like aplasia cutis congenita. We emphasize that the possibility of this rare entity should be kept in mind in the presence of fetus papyraceus, perinatal drug use, maternal cigarette smoke, or maternal diseases like bronchial asthma in multiple gestations.
Gurfinkel PC, Campos-do-Carmo G, Ishida CE
… +3 more, Piñeiro-Maceira J, Valiante PM, Ramos-E-Silva M
J Dermatol Case Rep
· 2013 · PMID 24133563
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BACKGROUND: The incidence of cutaneous melanoma is increasing worldwide and early diagnosis is essential since the prognosis is poor in advanced stages of disease. Dermoscopy emerged as an additional and important diagno...BACKGROUND: The incidence of cutaneous melanoma is increasing worldwide and early diagnosis is essential since the prognosis is poor in advanced stages of disease. Dermoscopy emerged as an additional and important diagnostic procedure for the early diagnosis of cutaneous melanoma. MAIN OBSERVATION: We report a case of a 52-year-old man, who developed a pigmented lesion in the right pretibial region. Dermoscopy highly suggestive of melanoma. The initial histopathological evaluation suggested a benign lesion. Since dermoscopy was very suspicious, a more extensive histopathological study of the excised skin fragment was performed. This led to a change of diagnosis to a melanoma with partial regression. CONCLUSIONS: The present case shows that occasionally dermoscopy may be more informative for diagnosis of melanoma than an initial histopathology result.
Garrido Colmenero C, Martín Castro A, Valenzuela Salas I
… +3 more, Martínez García E, Blasco Morente G, Tercedor Sánchez J
J Dermatol Case Rep
· 2013 · PMID 24133562
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BACKGROUND: Lichen planopilaris (LPP) is a rare variant of cutaneous lichen planus that preferentially involves hair follicles. OBSERVATION: We describe the case of an 87-year-old woman with cicatricial alopecia due to l...BACKGROUND: Lichen planopilaris (LPP) is a rare variant of cutaneous lichen planus that preferentially involves hair follicles. OBSERVATION: We describe the case of an 87-year-old woman with cicatricial alopecia due to lichen planopilaris. The diagnosis was based on clinical evaluation, histopathology and trichoscopy. Squamous cell carcinoma developed within the hairless area after 18 years of evolution. CONCLUSION: It is necessary to consider the association between lichen planopilaris and squamous cell carcinoma and to ensure a close follow-up of LPP patients, especially when there is a long history of the disease or new a lesion develops, which does not correspond clinically or in trichoscopy to lichen planopilaris.