Incontinentia Pigmeni with nail dystrophy

K Aggarwal, VK Jain, S Dayal

 Department of Skin, V.D. & Leprosy, Pt. BDS Postgraduate, Institute of Medical Sciences, Rohtak-124001 (Haryana), India

Correspondence Address:
V K Jain
11/9J, Medical Enclave, Pt. BDS PGIMS, Rohtak-124001 (Haryana)
India

Introduction

Incontinentia pigmenti is a rare, hereditary syndrome in which phases of linear vesicular, verrucous and then peculiar swirled, pigmented cutaneous lesions are seen which may be associated with developmental defects of eye (cataract, uveitis, optic atrophy, strabismus, retrolental fibroplasia), teeth (delayed dentition, partial anodontia, cone or peg shaped teeth or absence of teeth), skeletal system (skull and palatal defects) and central nervous system (epilepsy, microcephaly, mental retardation and slow motor development). Cutaneous lesions may also be accompanied by defects of cutaneous appendages in the form of cicatricial alopecia resembling pseudopelade or in a few cases, small and dystrophic nails.[1] Onset may either be at birth or before the end of first week. Rarely, skin lesions start appearing after first two months of birth. Brownish, bluish grey or slaty pigmentation in characteristically diagnostic, bizarre, splashed or ′Chinese figure′ distribution may persist for many years. This uncommon genodermatosis, inherited by X-linked dominant gene, primarily affects female infants and is lethal in males.[2]

Although cases of incontinentia pigmenti have been reported from India and other countries,[1],[2],[3],[4],[5],[6],[7],[8],[9],[10] we are reporting a case of incontinentia pigmenti in a 5 months old female child with onycholysis of nails which is rare in occurrence.

Case Report

A five months old female child presented with crusted plaques studded with warty, papular lesions on the trunk, both upper and lower extremities. The baby was second in order, born to non-consanguinous parents with full term normal delivery. The only other sibling was an elder female child, two years of age, who was normal. There was no history of abortion or death of a male child, previously. Family history was non-conclusive.

The skin lesion started appearing at one month of age in the form of vesicular lesions on the lower extremities which gradually spread onto the trunk. These were followed by crusted plaques which diffusely involved front of trunk, both upper and lower extremities. The crusted plaques were variable in size, oval to round in shape and with well-defined margins. The crusts were yellowish brown in colour and closely adherent. At places, the plaques were studded with warty papular lesions. Linear streaks of warty lesions were present starting from the tips of the fingers and toes and extending onto the dorsal, palmar and plantar aspects of hands and feet. On the posterior aspect of both lower extremities, linear streaks of slaty pigmentation were present. Nails of the fingers of both hands showed onycholysis with dystrophy of the nail plate. Scalp was normal.

Systemic examination including ocular, CNS and skeletal systems revealed nothing abnormal. Eosinophils in blood counts were 12%. Skin biopsy revealed hyperkeratosis and irregular lobulated acanthosis. There were large number of dyskeratotic cells present throughout the acanthotic lobulated epidermis. A few melanophages were present in the dermis.

Discussion

Incontinentia pigmenti is an uncommon genodermatosis with three clinical stages i.e. vesicular, verrucous and pigmented associated with congenital anomalies of CNS, eye, skeletal system and teeth. Abnormalities of the cutaneous appendages like cicatricial alopecia, usually at or around the vertex, have been reported.[1]

In the present case, a five months old female child presented with crusted plaques studded with warty papules arranged diffusely on the trunk and in a linear fashion on all four extremities extending onto finger tips and toes. The nails were characteristically showing dystrophy with onycholysis. Nail dystrophy has been reported[1] but as such onycholysis has rarely been reported earlier. This may be a part of the ectodermal defects associated with incontinentia pigmenti. In the present case, there was no other congenital abnormality. Eosinophilia and skin biopsy report supported our diagnosis.

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