title: Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?
abstract: 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.
authors.affiliation: Centre of Human Genetics, University of Liège, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: M
authors.initials: M
authors.lastname: Soyeur-Broux
authors.forename: J
authors.initials: J
authors.lastname: Arrese-Estrada
authors.forename: C
authors.initials: C
authors.lastname: Piérard-Franchimont
authors.forename: P
authors.initials: P
authors.lastname: Dodinval
authors.forename: G E
authors.initials: GE
authors.lastname: Piérard
mesh_terms: D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D006197:Hair / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D063173:Retrognathia / Q000235:genetics* / Q000473:pathology; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome