Rubinstein–Taybi Syndrome and Ulerythema Ophryogenes in a 9‐Year‐Old Boy

Abstract

Rubinstein-Taybi syndrome is characterized by the presence of a peculiar facies, mental retardation, and broad thumbs and great toes. Several associated cutaneous abnormalities have been reported with this syndrome. Ulerythema ophryogenes is a form of follicular keratosis associated occasionally with other ectodermal defects and congenital anomalies. We describe a 9-year-old child with Rubinstein-Taybi syndrome and ulerythema ophryogenes. This association has not been described previously to our knowledge.

Dizygotic twins with congenital malalignment of the great toenails: Reappraisal of the pathogenesis

“…33 This suggests that defects of nail development may underlie CMGTN. ''Large toes and toenails'' is a characteristic part of the phenotype of the Rubinstein-Taybi syndrome and reports in the literature describe significant nail abnormalities such as paronychia and hypoplasia of the toenails [34][35][36][37] and, more recently, severe CMGTN 32 in patients with this syndrome. Since genes linked to the Rubinstein-Taybi syndrome belong to the family of homeobox-equivalent genes of morphogenesis, 38 it is convenient to suppose that some of their functions may relate to the appropriate timing of growth rates of different tissues.…”

Diseases of cutaneous appendages

“…1232,1233 It may later involve the forehead and cheeks. Less common clinical associations include atopy, mental retardation, 1233 woolly hair, 1234 cardiofaciocutaneous syndrome, 1235,1236 Rubinstein-Taybi syndrome (OMIM 180849), 1237 Cornelia de Lange syndrome (OMIM 122470), 1238 Noonan's syndrome (OMIM 163950), [1239][1240][1241][1242] Bazex-Dupré-Christol syndrome (OMIM 301845), 1243 and a low serum vitamin A level. 1233 Keratosis pilaris of the arms, buttocks, and thighs is often present.…”

A 15‐Year‐Old Boy with Rubinstein‐Taybi Syndrome Associated with Severe Congenital Malalignment of the Toenails

“…Other cutaneous findings reported in association with RTS include seborrhea, thin and sparse hair, long eyelashes, atopic eczema, keratosis pilaris, ulerythema ophryogenes, pilomatricomas, piebaldism, and café au lait spots. There have been few reports in the literature describing significant nail abnormalities such as paronychia and hypoplasia of the toenails in RTS patients (13–16).…”