Congenital hypertrichosis lanuginosa and congenital glaucoma

Abstract

An infant with congenital hypertrichosis lanuginosa (CHL) and congenital glaucoma is presented. Both conditions are rare and have not been previously reported to occur in association.

Congenital Generalized Terminal Hypertrichosis with Gingival Hyperplasia

“…In a later study, Figuera et al (16), found in the same family significant evidence for linkage with several markers from the long arm of the X chromosome, specifically at the locus Xq24‐q27.1. In other reports it has been proposed that the expression of the syndrome depends on an atavistic reversion of a suppressed ancestral gene during evolution (1,2,4,19,20) or as an interrupted embryologic development that results in an association with dental abnormalities (21). The marked reduction of hair coverage observed in humans compared with nonhuman primates suggests that these genes have undergone important structural and/or regulatory changes during the evolution of humans (16).…”

“…Congenital generalized hypertrichosis is a very rare disorder that is characterized by the presence of excessive hair covering the entire body with the exception of the palms and soles (1)(2)(3)(4)(5)(11)(12)(13)(14)(15). The pattern of hair follicles in the skin is genetically determined, but the production of hair is under complex genetic and endocrinologic control (16), therefore these cases should be carefully studied by several specialists.…”

“…Hypertrichosis is defined as the presence of excessive hair growth when compared to subjects of the same age, sex, and race (1–3). It can be localized or generalized, congenital or acquired; it may be an isolated feature or may occur as part of a syndrome with morphologic and/or metabolic disorders.…”

Childhood hypertrichosis: diagnosis and management.

“…Congenital hypertrichosis universalis is a very rare genetic condition in which the whole body is covered by excessive fine, light coloured hair that can reach a considerable length.8 9 The condition was erroneously thought to be associated with increased mortality because the first reported case of leprechaunism was described (and subsequently cited) as congenital hypertrichosis universalis.10-15 To confuse matters further, the terms congenital hypertrichosis universalis, congenital hypertrichosis lanuginosa, and hypertrichosis lanuginosa have been used synonymously, 9 11 12 14 [16][17][18][19][20][21][22][23] although they cover three different clinical entities. The three subtypes are believed to result from mutation of an autosomal dominant gene, but differ with regard to the persistence and pattern of hypertrichosis, and the associated anomalies.…”

Hypertrichosis Lanuginosa Congenita

“…The hypertrichosis may increase during early childhood or may diminish later, but the lanugo characteristics of the hair may be retained even after puberty. The hypertrichosis may also be associated with pyloric stenosis and precocious tooth (4), fallot teratology, growth and developmental delay (5), and congenital glaucoma (6).…”