Hyperpigmentation indian skin

On examination, the child had slate brown hyperpigmented macules on face and lower limbs in linear distribution. Widely distributed areas of pigmentation in whorled pattern were seen on trunk [ Figure 1 ].

Oral cavity showed hypodontia with peg-shaped teeth [ Figure 2 ]. The physical and intellectual development of boy was considered subnormal for age by pediatrician. His developmental milestones were delayed for age, and he had complaints of primary nocturnal enueresis. Systemic examination including ocular, central nervous system CNSand skeletal systems revealed nothing abnormal. Hair and nails were normal.

Hematological tests showed peripheral blood eosinophilia. CT scan brain was normal. Histopathological examination revealed mild epidermal hyperplasia acanthotic with dyskeratotic cells with few whorls of squamous cells with central keratinization.

Hyperpigmentation indian skin

Dermis reveals infiltrates of eosinophils and mononuclear cells. The other sibling was a male child who expired at 7 months of gestational age due to hydrops fetalis.

On examination, the child had vesiculo-bullous lesions on both lower limbs. Systemic examination including that of eyes, CNS, and skeletal system revealed nothing abnormal. Routine blood, urine, and stool examinations did not show any abnormality, except for raised eosinophils on differential leukocyte count.

VDRL of mother and the child was non-reactive, and a skin biopsy was performed, which revealed spongiotic intra-epidermal vesicles with a rich eosinophil infiltrate [ Figure 5 ].

Incontinentia pigmenti is a rare genodermatoses with only few cases having been reported.

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Skin manifestations can be observed at birth or within neonatal period. Therefore, the role of dermatologists and pediatrician is crucial in early diagnosis of IP.

Identification of male patients[ 6 ] is valuable because of their rarity. In our case, both patients had characteristic clinical features of the disease but were otherwise normal, which shows that both were suffering from mild variant of the disease, which belies the fact that the disease is lethal in males.

Case 1 showed characteristic cutaneous whorled pigmentation with peg-shaped teeth and CVS abnormality. The diagnosis was further confirmed by hematological and histopathological findings. Case 2 had classical vesicular lesions, which were further confirmed by histopathology.

Histopathology showed spongiosis with characteristic eosinophilic infiltrates. This disease being incurable, genetic counseling is an important aspect of management, which helps to reduce the disease burden on the family and the society. There is no specific test for incontinentia pigmenti, although genetic testing and DNA analysis can detect the genetic disorder on the X chromosome. We report 2 cases of Incontinentia pigmenti in males who exhibit mild variant of the disease and hence this article belies the fact that this disease is fatal in males.

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