Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?

We report a clinicopathological observation concerning a man and his son affected by the same disease. The main cutaneous lesions included poikiloderma congenitale and generalized alopecia respecting the pubic area. These anomalies were associated with cleft palate and Robin sequence in the boy. The...

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Published inDermatologica Vol. 181; no. 2; p. 142
Main Authors Verloes, A, Soyeur-Broux, M, Arrese-Estrada, J, Piérard-Franchimont, C, Dodinval, P, Piérard, G E
Format Journal Article
LanguageEnglish
Published Switzerland 1990
Subjects
Alopecia - genetics
Alopecia - pathology
Cleft Palate - genetics
Cleft Palate - pathology
Hair - pathology
Humans
Infant, Newborn
Male
Retrognathia - genetics
Retrognathia - pathology
Rothmund-Thomson Syndrome - genetics
Rothmund-Thomson Syndrome - pathology
Skin - pathology
Syndrome
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Summary:We report a clinicopathological observation concerning a man and his son affected by the same disease. The main cutaneous lesions included poikiloderma congenitale and generalized alopecia respecting the pubic area. These anomalies were associated with cleft palate and Robin sequence in the boy. The main histological changes consisted in a marked atrophy of hairs with persistence of sebaceous glands. In sun-exposed areas, we found colloid bodies, melanophages and hyperplasia of the elastic tissue network. Those features resembled those of the Rothmund-Thomson syndrome, but the phenotype and the apparent dominant mode of inheritance exclude this possibility. A new genodermatosis, related with, but distinct from the Rothmund-Thomson syndrome is suspected, for which the acronym PARC syndrome is proposed.
ISSN:0011-9075