Skin Diseases in Klinefelter Syndrome

Special Article - Klinefelter’s Syndrome

Austin Andrology. 2017; 2(1): 1013.

Skin Diseases in Klinefelter Syndrome

Krause WKH*

Department of Dermatology and Allergology, University Hospital Marburg, Germany

*Corresponding author: Walter K. H. Krause, Department of Dermatology and Allergology, University Hospital Marburg, Heuchelheim, Germany

Received: May 02, 2017; Accepted: May 25, 2017; Published: June 01, 2017


The prevalence of skin diseases in men with Klinefelter syndrome in general is identical to that in men with normal genotype. However, there are some typical diseases which occur with enhanced frequency in Klinefelter syndrome. These include X-linked genodermatoses, which are normally lethal in male offspring, leg ulcer in younger men, male breast cancer and gynecomastia. The clinical features of these diseases are described in the paper.

Keywords: X-linked genodermatoses; Leg ulcer; Morbus Paget; Gynecomastia

X-linked Genodermatoses

Usually, genes of one of the X chromosomes are inactivated in women (Lyonization). Thus X-linked genodermatoses are observed only in women, when the mutation is lethal in male offspring. This concerns the following syndromes: incontinentia pigmenti, focal dermal hypoplasia, Conradi-Hünermann-Happle syndrome, oralfacial- digital syndrome type 1 and MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as hypohidrotic ectodermal dysplasia of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopeciaphotophobia) syndrome and X-linked dyskeratosis congenita [1].

The two X chromosomes present in males with Klinefelter syndrome offer the potential that also males suffer from the syndromes mentioned above. Only a minor group, however, was observed until now and reported in the literature.

Incontinentia pigmenti (OMIM 308300, cytogenetic location Xq28) is caused by mutations in the NEMO gene in the IKK-gamma gene. The syndrome is an X-linked dominant disorder and is usually lethal prenatally in males. The 47, XXY karyotype is one of the mechanisms by which males may survive the effects of inheriting a lethal mutation. Seven cases of male IP and Klinefelter syndrome have been published in the literature until 2010 [2].

The clinical features of incontinentia pigmenti comprise linear skin lesions: early blistering with eosinophilia, eruption of hyperkeratotic lesions, hyper pigmentation along the lines of Blaschko, and dermal scarring (Figure 1).