Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.

BACKGROUND: Bathing suit ichthyosis (BSI) is an uncommon phenotype classified as a minor variant of autosomal recessive congenital ichthyosis (ARCI). OBJECTIVES: We report a case of BSI in a 3-year-old Tunisian girl with a novel mutation of the transglutaminase 1 gene (TGM1). CASE REPORT: This infant had been born with a collodion membrane encasing her entire body. From the age of three months, brownish scaling was noted on the bathing suit area. Histology showed orthohyperkeratosis with acanthosis of the epidermis. The granular layer was normal, and the superficial dermis was mildly inflammatory, confirming a diagnosis of proliferating ichthyosis. Molecular analysis in the patient and her parents revealed the mutation I304F of TGM1. Treatment with emollients and keratolytics partially improved the patient's skin condition. CONCLUSIONS: Bathing suit ichthyosis is an uncommon phenotype unique in its topography, which involves the trunk but spares the face and extremities. Previous studies using molecular analysis have shown that BSI is caused mainly by mutations in TGM1. Twenty missense mutations have been reported in BSI. Of these 20 missense mutations, nine occurred only in patients with the BSI phenotype and 11 were common to BSI and other types of ARCI. Until recently, there has been no genotype-phenotype correlation. Therefore, the same mutation of the transglutaminase 1 could result in either generalized ARCI or BSI. The present case demonstrates this phenotype in a White Tunisian patient with a novel mutation of TGM1 (I304F) not previously reported in BSI.

A case of linear atrophoderma of Moulin successfully treated with methotrexate.

Linear atrophoderma of Moulin is an acquired rare and self-limited skin condition. It is characterized by atrophic bandlike skin lesions that often show hyperpigmentation and always follow the lines of Blaschko. Usually it begins in childhood or adolescence and there is no evidence of any long term progression. We describe a case of a 21-year-old woman with clinical and histological features of linear atrophoderma of Moulin. The patient was successfully treated with methotrexate 20 mg/week during 6 months with an improvement of skin pigmentation and atrophy. Approximately, 30 cases of linear atrophoderma of Moulin were described in the literature. There is not a proven effective treatment of this dermatosis. High dose penicillin, topical corticosteroids, heparin, and oral potassium aminobenzoate have been used but found to be uneffective. To our knowledge, this is the first case of extensive linear atrophoderma of Moulin treated with methotrexate.

Long-pulsed Nd:YAG laser in the treatment of facial hypertrichosis during topical minoxidil therapy.

Hypertrichosis is a well-recognized adverse effect of therapy with either oral or topical minoxidil. We report a case of fronto-temporal hypertrichosis occurring in an 8-year-old girl treated for patchy alopecia areata of the frontal area of the scalp with 2% minoxidil solution. After failure of 5-months minoxidil-discontinuation, hair removal with Nd:YAG laser (1064 nm line) (Smartepil II, Deka) was tested leading to complete resolution within 2 sessions.

Radiotherapy-induced pemphigus vulgaris with autoantibodies targeting a 110 kDa epidermal antigen.

BACKGROUND: Pemphigus is an autoimmune intraepidermal blistering disease mediated by autoantibodies targeting desmosomes. It can be induced by many triggers, such as ionizing radiation. METHODS: We report a case of radiotherapy-induced pemphigus (RIP) with a review of the published cases in the English and French literature. RESULTS: A 61-year old man was diagnosed to have epidermoid carcinoma of the piriform sinus and then received a 70 Gy radiation therapy. One month after the treatment completion, multiple blisters and erosions occurred initially on the site of irradiation, then in other skin areas. Histological examination showed an intraepidermal blister with acantholysis and necrosis of individual keratinocytes. Direct immunofluorescence and indirect immunofluorescence were typical of pemphigus. Immunoblot revealed antibodies reacting with a 110 kDa antigen. This feature was consistent with the diagnosis of RIP. Less than 20 cases of RIP have been reported previously. Mean age at diagnosis was 64.2 years, and there is a slight female preponderance. RIP occurred, in most cases, initially within the area of irradiation. CONCLUSION: Our patient showed some distinctive findings never reported previously in RIP: a histological focal keratinocyte necrosis, and the presence of autoantibodies reacting with a 110 kDa keratinocytic protein in immunoblot analysis. Because of a different prognosis, it is important to differentiate RIP and paraneoplastic pemphigus (PNP), although cases of ionizing radiation-induced PNP had also been described. As in our patient, RIP seems to respond well to systemic corticosteroids and immunosuppressive therapy, which induce remission within a few months.

Erythematous nodule of the eyelid.

A 68-year-old woman had a 15-day history of a well-circumscribed, erythematous nodule of the left eyebrow/eyelid area. After excision a primary cutaneous large B-cell lymphoma was diagnosed. The tumor was excised with clear margins and the patient has shown no recurrence over two years.