Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma.

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.

Peeling skin syndrome in eight cases of four different families from India and Bangladesh.

Peeling skin syndrome (PSS) is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. This has 2 subtypes, acral (APSS; OMIM 609796) and generalized form (OMIM 270300). The later has been subdivided into type A (non-inflammatory) and type B (inflammatory). Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. They were diagnosed clinically and confirmed histopathologically. Disease onset ranged from birth to childhood age (mean 5.25 ± 4.528 years) and age at presentation ranged from 7-35 years (mean 23.25 ± 10.471 years). Males outnumbered females (M:F - 5:3). All had non-inflammatory generalized disease of type-A PSS variety, except one who had type-B PSS. Two Muslim families (1 st and 2 nd family, total 5 patients) came from nearby country Bangladesh, and the 2 Hindu families were Indian. Higher severity over acral areas in generalized type, possible autosomal dominant pattern of inheritance and improvement with age as found in this series were new manifestations and possibly unreported previously. The disease was found to be poorly responsive to oral retinoids. Prevalence of the disease may be higher than expected. Importance of mutational analysis was also highlighted.

Familial atrophia maculosa varioliformis cutis: first case report from the Indian subcontinent with pedigree analysis.

Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.

Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria.

Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.