INCONTINENTIA PIGMENTI: A CASE REPORT
Incontinentia Pigmenti is a rare X-linked genodermatosis, caused by mutations in the NEMO/IKKγ/IKBKG gene.
It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs.
The name “incontinentia pigmenti” is related to the histological characteristics of the lesions during the third, pigmentary stage, of the disease. It is melanin incontinence by melanocytes in the basal epidermal layer and its presence in the superficial dermis.
Incontinentia pigmenti is really an uncommon disease.
IP occurs in approximately 1 in 10.000 of female newborns.
The disease is predominant in women: less than 3% of cases are male and derives by other genetical disorder, not completely understood.
Most cases have been described in white persons. Also other races (e.g. Korean, brasilian, cinese) are affected.
About 50% of the IP cases have a positive family history.
The clinical presentation of IP vary considerably even among family members. They range from subtle cutaneous and dental involvement to a complex syndrome, sometimes deadly.
Although IP affects many organ systems, the skin manifestations are the most common. Characteristic skin lesions evolve through four stages: 1)bullous stage; 2)verrucous stage; 3) pigmentary stage; 4) atretic stage. Tipically, the skin abnormalities occur along the Blaschko’s lines.
The hair is usually normal but sometimes we describe hair alteration. Alopecia may occur on the scalp and also on the trunk and extremities. Hair may be also thin or lusteriess, wiry and coarse (“woolly hair”). About 40% of patients have nail abnormalities. The most common nail alterations are onychodystrophy, onychogryphosis, pitting, yellow discoloration. Subungeal and periungueal keratotic tumors may appear at the later stage.
Extracutaneous manifestation can also been documented in patients with IP (dental abnormalities, ocular defects, neurological disorders, abnormalities of the musculoskeletal or cardiovascular system).
The diagnosis is mainly clinical. Family history consistent with X-linked inheritance or a history of multiple miscarriages also supports the diagnosis. Peripheral eosinophilia is a suggestive sign in early diagnosis. The histological examination of a skin biopsy could confirm the diagnosis. Also the molecular genetic testing (NEMO mutation) and the X-chromosome inactivation studies are important to confirm the diagnosis.
The prognosis is generally good and depends on extracutaneous manifestations.
Women with IP have a higher than usual risk of pregnancy loss, presumably related to low viability of male fetuses.
Because IP is a systemic disorder, a multidisciplinary approach to management is crucial.
Spontaneous improvement and resolution of skin lesions is general the rule. - Disclaimer-
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