Familial atrophia maculosa varioliformis cutis: case report and pedigree analysis

Abstract

Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.

Diseases of cutaneous appendages

“…A condition described in the literature as atrophia maculosa varioliformis cutis (OMIM 601341) affects a similar location on the cheeks 1270-1273 but there is no mention in these cases of a preceding stage with follicular plugging. 1277 A disorder of elastin has been suggested. 1274 Familial cases of this variant have been reported.…”

Monozygotic twins with atrophia maculosa varioliformis cutis

“…Heidingsfeld first described this condition in an adolescent man with lesions on the face . The clinical features in AMVC include linear, punctate, and varioliform atrophic scars, with predominantly distributed over the malar region and forehead, and rarely over the neck, without any history of preceding lesions or trauma . Rare reports exist of AMVC presenting over the trunk and the extremities .…”

“…Rare reports exist of AMVC presenting over the trunk and the extremities . Lesions are usually asymptomatic and may be progressive in course . Systemic associations are not typical, though single case reports of extrahepatic biliary atresia and of pachydermodactyly were found in the literature …”

“…A genetic basis has been questioned, and the condition has been assigned OMIM #601341. Among the families reported, there have been 4 sibling pairs, one mother and son pair (with the mother's father, paternal aunts and paternal grandmother also reported as affected) and one five‐generation family in which there was no male to male transmission (though no affected men had male offspring) . Thus, autosomal dominant inheritance cannot be proven.…”

A Case of Atrophia Maculosa Varioliformis Cutis

“…However, there were no associated diseases for our case. Recently, some cases have revealed a familial occurrence, which suggests that AMVC may be an inherited disease 3,[10][11][12][13] . The histological findings are variable, including epidermal thinning, a mild perivascular lymphocytic infiltrate, decreased or fragmented elastic fibers and/ or normal or increased collagen in the superficial or mid-dermis [3][4][5] .…”