Familial acrogeria (Gottron)

Abstract

A mother and her oldest son suffering from acrogeria are described; in the mother the disease was complicated by elastosis perforans serpiginosa. Microscopic and ultramicroscopic details are given.

A rare case of acrogeria

“…Nail changes include atrophy and thickening which were absent in our patient. 8 In the skin histopathology, there is atrophy of the dermis and subcutis. The collagen fibres are loose and dispersed, while the elastic fibres are always fragmented.…”

Fibroblasts of an Acrogeria Patient Produce Normal Amounts of Type I and III Collagen

“…This syndrome forms its own clinical entity with atrophic acral skin which reaches about 5 cm to the distal extremities, mottled hyperpigmentation of the skin, thickened nails, micrognathia and atrophic skin on the tip of the nose. Most of the patients described so far show a rather similar clinical syndrome with little het erogeneity of the symptoms [3,4,6,[8][9][10][21][22][23][24][25][26][27][28][29]. In some cases formation of ugly scars, and seldom bruising, belongs also to the picture of acrogeria.…”

“…Sometimes the differentiation between acrogeria and early-onset meta geria is difficult; it has been suggested that metageria is an extreme variant of acrogeria. In fact, both of these syndromes have been found in the same family [9], Detailed infor mation of more patients and families is needed to further characterize the clinical features as well as the mode of inheritance which has remained unclear because only 2 familial cases of acrogeria have been described so far [4,6].…”

“…The clinical features are well established and the histo logic changes have been partially character ized, but the underlying biochemical defects have so far remained unclear [4][5][6]. The pa tients show an old-appearing thin acral skin, dystrophic nails, mottled hyperpigmenta tion of the trunk, micrognathia and atrophy of the skin on the tip of the nose.…”

“…The pa tients show an old-appearing thin acral skin, dystrophic nails, mottled hyperpigmenta tion of the trunk, micrognathia and atrophy of the skin on the tip of the nose. The mode of inheritance is not yet clear [4,6,7], As histologic features, disappearance of sub cutaneous fat, atrophic dermis, abnormal collagen and elastic fibers, vacuolized large fibroblasts and atrophic thin epidermis have been described [6,[8][9][10], Except for 1 report the disease has not been characterized bio chemically; Pope et al [11] suggest that acrogeria is a subtype of the ecchymotic variant of the Ehlers-Danlos syndrome (type IV) in which deposition of type III col lagen in the extracellular matrix is disturbed [12].…”