Incontinentia pigmenti diagnostic criteria update

Abstract

In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.

Neonatal incontinentia pigmenti: Six cases and a literature review

“…Consistent with an international study (41), the majority of the patients were female. However, data from a recent large-sample study in Serbia revealed a male-to-female ratio of 91.83 to 5.85% (~15.70:1) (38), which is markedly higher than the ratio found in the present study (6.33:1).…”

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar

“…The presence of other alterations, such as dental and/or oral abnormalities, are included as minor IP diagnostic criteria (17) . From the patients with the disease, 79.9% have one or more anomalies involving other organs besides the skin.…”

Pigmentary disorders of the eyes and skin

“…80 The fourth and final cutaneous stage is characterized by hypopigmentation, atrophy, and alopecia of the affected skin by early adulthood. 81 The dermatologic manifestations of IP can also include nail dystrophy. Potential systemic manifestations include neurologic, ophthalmologic, skeletal and dental abnormalities.…”