Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term “Ambras syndrome”

Abstract

Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome" Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was erroneously analogized to the portrait paintings of Petrus Gonzales and his children, exhibited in Ambras Castle near Innsbruck, Austria. This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait. CGHT associated with gingival hyperplasia is probably a particular entity typified by the historical cases of Julia Pastrana and her son. An X-linked type of CGHT has likewise been categorized as "Ambras syndrome". Moreover, some reports have mistakenly classified "Ambras syndrome" as an example of hypertrichosis lanuginosa. Potential gene loci identified so far may include 8q22, 17q24.2-q24.3 and Xq24-q27.1. The designation "Ambras syndrome" has thus been applied to various types of congenital hypertrichosis that differ to such degree that the name "Ambras" has no specific meaning, neither in the past nor in the future. Hence, this misleading term should now be jettisoned.

Generalized hypertrichosis syndromes in Mexico

“…Historical cases and worldwide medical reports serve as a basis in an attempt to categorize CGHT. We consider Chen et al's (2015) classification an excellent starting point from which to redefine the CGHT classification, at least for a while, of these different phenotypes (Table 1).…”

“…For a long time, the term Ambras syndrome was used to refer to different types of hypertrichosis; however, there has never been a precise delineation of the phenotype. This led Chen, Ring, and Happle (2015) to suggest discontinuing the use of the term and proposing a classification for congenital generalized hypertrichosis terminalis (CGHT) based mainly on the mode of inheritance and the type of presentation (i.e., syndromic, non-syndromic, or sporadic), which we have modified according to the now known etiologies and associated loci (Table 1).…”

“…The objective of this article is to review the main forms of CGHT initially described in Mexico or in Mexican patients and to review how the description and study of these genetic entities have been refined (Table 1). The disorders include (a) X-linked generalized congenital hypertrichosis, (b) Cantú syndrome (CS), and (c) generalized congenital hypertrichosis with or without gingival hyperplasia (Cantú, Garcia-Cruz, Sanchez-Corona, Hernandez, & Nazara, 1982; Canún, Guevara-Sanginés, T A B L E 1 Classification of severe and moderate congenital generalized hypertrichosis terminalis (CGHT) based on inheritance mode and associated clinical manifestations (modified from Chen et al, 2015) Elvira-Morales, Sierra-Romero, & Rodríguez-Asbun, 2003;Chen et al, 2015;DeStefano et al, 2014;Guevara-Sanginés et al, 2002;Macías-Flores et al, 1984;Tadin et al, 2001).…”