title: Familial atrophia maculosa varioliformis cutis: first case report from the Indian subcontinent with pedigree analysis.
abstract: 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.
authors.affiliation: Department of Dermatology, Venereology and Leprology, Muzaffarnagar Medical College, Muzaffarnagar, India. tarang_derma@yahoo.co.in
authors.forename: Tarang
authors.initials: T
authors.lastname: Goyal
authors.forename: Anupam
authors.initials: A
authors.lastname: Varshney
authors.forename: S K
authors.initials: SK
authors.lastname: Bakshi
mesh_terms: D000293:Adolescent; D000328:Adult; D003879:Dermatologic Agents / Q000627:therapeutic use; D004817:Epidermis / Q000473:pathology; D005148:Facial Dermatoses / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007194:India; D015474:Isotretinoin / Q000627:therapeutic use; D008297:Male; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*
chemical_list: D003879:Dermatologic Agents; D015474:Isotretinoin