Incontinentia Pigmenti in a Boy with Klinefelter's Syndrome

Overview

Journal J Med Genet

Specialty Genetics

Date 1987 Jul 1

PMID 3612722

Citations 6

Authors

A D Ormerod

M I White

E McKay

A W Johnston

Affiliations

Soon will be listed here.

Abstract

A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.

Citing Articles

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.

Cifaldi C, Sgrulletti M, Cesare S, Rivalta B, Emanuele A, Colucci L J Clin Med. 2025; 14(2.

PMID: 39860371 PMC: 11765721. DOI: 10.3390/jcm14020363.

Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.

Pescatore A, Spinosa E, Casale C, Lioi M, Ursini M, Fusco F Int J Mol Sci. 2022; 23(3).

PMID: 35163099 PMC: 8835834. DOI: 10.3390/ijms23031179.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E BMC Pediatr. 2018; 18(1):286.

PMID: 30157809 PMC: 6116546. DOI: 10.1186/s12887-018-1259-8.

A Case of a Surviving Male Infant with Incontinentia Pigmenti.

Song J, Na C, Chung B, Choi K, Shin B Ann Dermatol. 2016; 20(3):134-7.

PMID: 27303177 PMC: 4903964. DOI: 10.5021/ad.2008.20.3.134.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Kenwrick S, Woffendin H, Jakins T, Shuttleworth S, Mayer E, Greenhalgh L Am J Hum Genet. 2001; 69(6):1210-7.

PMID: 11673821 PMC: 1235532. DOI: 10.1086/324591.

References

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