Ulerythema ophryogenes with multiple congenital anomalies

Diseases of cutaneous appendages

“…1232,1233 It may later involve the forehead and cheeks. 1232,1233 It may later involve the forehead and cheeks.…”

“…Pitted scars and alopecia usually result. 1233 Some reports suggest an autosomal dominant inheritance. 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. 1233 A gene in the 18p region may be involved. 1233 Some reports suggest an autosomal dominant inheritance.…”

Keratosis Pilaris Rubra

“…Keratosis pilaris atrophicans is likely inherited in an autosomal dominant fashion with incomplete penetrance. 19,20 Keratosis follicularis spinulosa decalvans, a rare condition with an X-linked dominant inheritance, can also be considered in the differential diagnosis. It is morphologically similar to KPA but is more widespread, resulting in a scarring alopecia involving the eyebrows, eyelashes, and scalp.…”

Ulerythema Ophryogenes in Cornelia de Lange Syndrome

“…Keratosis pilaris atrophicans faciei (ulerythema ophryogenes) has been described as a cutaneous marker for different congenital syndromes, such as Noonan syndrome, atopy, and the cardiofaciocutaneous syndrome (6–9). To our knowledge, the association of this impairment of keratinization with Cornelia de Lange syndrome has not been reported before.…”