Ulerythema Ophryogenes in Cornelia de Lange Syndrome

Abstract

A 17-year-old woman with Cornelia de Lange syndrome had asymptomatic skin lesions since the age of 4 years. These were multiple, follicular, horny papules, present on both cheeks, and surrounded by erythematous skin. Similar lesions were present on the external aspect of the arms, but amidst skin of normal coloration. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes) has been described as a cutaneous marker for several congenital syndromes. To our knowledge, its possible association with Cornelia de Lange syndrome has never been reported.

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.…”

Cornelia de Lange syndrome and psoriasis: Report of a case

“…In the literature at our disposal we found an association with rosacea in a 16 years old female [15], and Uleritema Ofriogenes in a 17 years old female [16]. Our patient represents the second case of CdLS associated with psoriasis [17].…”

What Syndrome Is This?

“…In 1989, Filippi (12) reported multiple pigmented nevi in six patients with BDLS. In 1998 Martínez‐Frías et al (13) described a patient with associated lymphedema, and in 2002 Florez et al (14) described the association with ulerythema ophryogenes (15–18). The dermatologic features of BDLS are summarized in Table 1.…”