Ann Dermatol.  2008 Sep;20(3):134-137. 10.5021/ad.2008.20.3.134.

A Case of a Surviving Male Infant with Incontinentia Pigmenti

• Song JY
• Na CH
• Chung BS
• Choi KC
• Shin BS

• KMID: 2156379
• DOI: http://doi.org/10.5021/ad.2008.20.3.134

Abstract

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.

Keyword

Bloch-Sulzberger's disease; Incontinentia pigmenti

MeSH Terms

Humans
Incontinentia Pigmenti
Infant
Karyotype
Male
Mosaicism
Skin Manifestations
X Chromosome

Figure

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  Fig. 1 (A, B) On the third day, linear distribution of clustered vesicles on the left lower extremity and trunk along the Blaschko's lines. (C) On the fifth day, blistered skin replaced by crusts and scaling. (D) On the fifteenth day, hyperkeratotic verrucous papules and plaques developed at the site of previous blistering

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  Fig. 2 Chromosome analysis from blood showed a normal male karyotype (46, XY).

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  Fig. 3 Histologic feature showing dyskeratotic cells throughout the spongiotic epidermis, basal liquefaction degeneration, and inflammatory infiltration composed predominantly of eosinophils (H&E, ×100).

Reference

1. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel- Teillac D, Smahi A, Touil Y, et al. Clinical study of 40 cases of Incontinentia pigmenti. Arch Dermatol. 2003; 139:1163–1170.

2. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002; 47:169–187.

3. Pacheco TR, Levy M, Collyer JC, Parra NP, Parra CA, Garay M. Incontinentia pigmenti in male patients. J Am Acad Dermatol. 2006; 55:251–255.

4. Lenz W. Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet. 1975; 27:690–691.

5. Ormerod AD, White MI, McKay E, Johnston AW. Incontinentia pigmenti in a boy with Klinefelter's syndrome. J Med Genet. 1987; 24:439–441.

6. Park SS, Kook HI. A case of Incontinentia pigmenti in male. Korean J Dermatol. 1982; 20:487–489.

7. Kim BJ, Lee DH, Shin HS, Won CH, Lee JH, Kwon OS. Incontinentia pigmenti in male infant. Korean J Dermatol. 2006; 44:624–626.

8. James WD, Berger TG, Elston DM. Genodermatoses and congenital anormaly. Andrew's disease of the skin. Philadelphia: Elsevier;2006. p. 547–549.

9. Scheuerle AE. Male cases of incontinentia pigmenti: case report and review. Am J Med Genet . 1998; 77:201–218.

10. Fusco F, Bardaro T, Famiani G, Mercadante V, Miano MG, Falco G. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. Hum Mol Genet. 2004; 13:1763–1773.

11. Goldberg MF. The skin is not the predominant problem in Incontinentia pigmenti. Arch Dermatol. 2004; 140:748–750.

12. Mayer EJ, Shuttleworth GN, Greenhalgh KL, Sansom JE, Grey RH, Kenwrik S. Novel corneal features two males with incontinentia pigmenti. Br J Ophthalmol. 2003; 87:554–556.

13. Carney RG. Incontineatia pigmenti-A world statistical analysis. Arch Dermatol. 1976; 112:535–542.

14. Mckee PH, Calonje E, Granter SR. Pathology of the skin with clinical correlation. Philadephia: Elsevier Mosby;2005. p. 702–704.

15. Clayton-Smith J, Watson P, Ramsden S, Black GC. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet. 2000; 356:830–832.

16. Elder DE, Elenitsas R, Johnson BL, Murphy GF. Lever's histopathology of the skin. Philadelphia: Lippincott Williams & Wlikins;2005. p. 168–169.

17. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger's disease). J Med Genet. 1993; 30:53–59.