Multiple Milia in a Newborn with Congenital Malformations: Oral-Facial-Digital Syndrome Type 1

Abstract

Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.

Hypotrichosis, milia, brachydactyly, and frenula

“…It is one of the 13 oral-facial-digital syndromes described to date; OFD1 is inherited in an X-chromosomal dominant fashion. In male fetuses, OFD1 leads to intrauterine death [1,2].…”

“…Approximately 50% of patients with OFD1 also show CNS anomalies (including pachygyria or agyria, absent corpus callosum, hydrocephalus, and arachnoid cysts) with mild mental retardation. Moreover, polycystic kidneys are also a common finding, which may often early on lead to terminal renal failure [1][2][3][4].…”

“…Key features distinguishing this syndrome from the multitude of related oral-facial-digital syndromes include milia on the head as well as congenital nonfibrosing hypotrichosis [2,3].…”

Síndrome orofaciodigital tipo I. Expresión fenotípica variable

“…Se caracteriza, además, por la presencia de quistes de milia y/o hipotricosis, lo que tendría una destacada implicancia para el dermatólogo pediatra. 3 Se describen dos pacientes de sexo femenino, con diagnóstico de SOFD con fenotipos clínicos diferentes.…”

“…3 Es considerable recordar que el quiste de millium, o quiste de queratina subepidérmico, puede presentarse espontáneamen-te sin causa asociada, como sucede en un alto porcentaje de neonatos, y puede formar parte de un trastorno familiar hereditario o estar asociado a una genodermatosis. 7 Este concepto es trascendental cuando valoramos a un recién nacido que presenta milia.…”