Incontinentia Pigmenti

Incontinentia pigmenti is a rare genetic condition characterised by skin, eye, teeth and central nervous system abnormalities. The characteristic skin lesions of incontinentia pigmenti are present at birth or develop in the first few weeks of life in most patients. Incontinentia pigmenti is a dominant X-linked disease. This means that the abnormal incontinentia pigmenti gene is located on one of the X chromosomes. Dominant X-linked disease means that a female with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome. Males who inherit the abnormal gene do not survive.

An evolving skin rash is the main clinical feature of the disease. There are four clinical stages but their sequence and duration are variable, and they may overlap.

Stage 1: Vesicular

-Red, blisters often grouped in lines along the arms and legs (following so-called lines of Blaschko)
-Present at birth or within the first 2 weeks of life in 90% of patients

Stage 2: Verrucous

-Wart-like lesions
-May be present at birth but in 70-80% of patients evolves after the first stage

Stage 3: Hyperpigmented

-Skin is darkened in a swirled pattern
-Hyperpigmentation tends to fade slowly

Stage 4: Hypopigmented

-Light colored lesions develop during adolescence and persist into adulthood
-Occur in 30-75% of patients

Diagnosis

Key Points
Initial diagnosis is based on appearance of the affected area and clinical examination
Skin Biopsy may be performed to confirm diagnosis and rule out other conditions
Other tests, such as blood, genetic, and imaging tests may be performed

Initial diagnosis of Incontinentia pigmenti is based on the appearance of the affected areas in a female infant in conjunction with clinical examination. A skin biopsy may be performed to confirm the diagnosis and to rule out the presence of other conditions. Other tests, including blood counts, genetic testing and imaging testing may be performed to determine the full extent of the condition.

Differential Diagnosis:

Stage 1 Lesions: Arthropod reaction, Bullous Congenital Ichthyosiform Erythroderma, Bullous Impetigo, Bullous Mastocytosis, Epidermolysis bullosa, Eosinophilic pustular Folliculitis, Erythema toxicum neonatorum, Herpes simplex and Varicella Zoster, Scabies, Linear IgA Bullous Dermatosis

Stage 2 Lesions: Linear epidermal nevus, Lichen striatus, Verruca vulgaris

Stage 3 Lesions: Linear and whorled nevoid hypermelanosis, Dermatopathia pigmentosa reticularis

Treatment:

No definitive treatment exists
*Goal of treatment is supportive; control stmptoms and prevent secondary infections

There is no direct treatment to combat Incontinentia pigmenti. The goal of treatment is to prevent secondary infection and track the development of the disease. Regular dental care and persistent examination by an opthamologist for the first few years of the affected person's life is recommended to assist in prevention.