Ann Dermatol.  2019 Oct;31(5):576-580. 10.5021/ad.2019.31.5.576.

Hypomelanosis of Ito with Multiple Congenital Anomalies

• Yu DA
• Kwon O
• Kim KH

• KMID: 2456238
• DOI: http://doi.org/10.5021/ad.2019.31.5.576

Abstract

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI with multiple congenital anomalies. A 2-month-old girl presented with multiple linear and whorling hypopigmentation on the face, trunk, and both extremities and patch alopecia on the scalp. Moreover, she had conical teeth, aniridia of the both eyes, and multiple musculoskeletal problems, including syndactyly and coccyx deviation. Cytogenetic analysis on peripheral blood was normal 46, XX, and no mutation was found in IKBKG gene test.

Keyword

Congenital anomalies; Karyotype; Mosaicism; Pigmentation disorders

MeSH Terms

Alopecia
Aniridia
Chromosome Aberrations
Coccyx
Cytogenetic Analysis
Extremities
Female
Humans
Hypopigmentation*
Infant
Karyotype
Mosaicism
Neurocutaneous Syndromes
Pigmentation Disorders
Scalp
Syndactyly
Tooth

Figure

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  Fig. 1 Linear, hypopigmented patches with irregular border on the face, scalp, trunk, and both extremities.

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  Fig. 2 (A) Ocular examination showed bilateral aniridia and unilateral corneal central opacity of the left eye. (B) Syndactyly of the left 2nd and 3rd toes was corrected surgically. (C) Cytogenetic analysis on peripheral blood lymphocytes was normal 46, XX.

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