Koraxitrachitic syndrome: A syndromic form of self-healing collodion baby with residual dappled atrophy of the derma

We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with p atchy erythema, generalized irregular dermal atrophy, alopecia, absent eyel ashes and eyebrows, and conjunctival pannus. Re also had hypertelorism, pro minent nasal root, large mouth, micrognathia, brachydactyly, syndactyly inv olving all interdigital spaces, and camptodactyly of fingers III-V. The hyp erkeratotic membrane thinned progressively, leaving a mottled reticulated s kin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceo us areas. Hair and nails were dystrophic, Mental development was borderline normal. The histological hallmarks of the skin manifestations combined ort hokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal ext racellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic, We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the k oraxitrachitic syndrome (kappa o rho alpha xi:grapnel-tau rho alpha chi iot a tau epsilon sigma:roughness) (C) 1999 Wiley-Liss, Inc.