What Is Incontinentia Pigmenti?

Pigment incontinence, also known as Bloch-Sulzberger disease, is mainly found in women and is an X-linked dominant hereditary disease. There are characteristic skin changes that can be accompanied by deformities and abnormalities of the eyes, bones and central nervous system.

Basic Information

nickname
Bloch-Sulzberger disease
English name
incontinentia pigmenti
Visiting department
dermatology
Multiple groups
female
Common locations
Torso, upper arms and thighs
Common causes
Nuclear factor NF-kB gene regulator (NEMO) gene mutation
Common symptoms
Urticaria-like, blister-like, verrucous dermatitis changes on both sides of the trunk, skin atrophy, nail atrophy, nail malnutrition, etc.

Causes of pigment incontinence

This disease is a hereditary disease, mainly found in women, and is an X-linked dominant hereditary disease, which has been confirmed to be caused by mutations in Xq11 (IP1) and Xq28 (IP2) located on the long arm of the X chromosome. The mutation of the nuclear factor NF-kB gene regulator (NEMO) gene plays a role in suppressing tumor necrosis factor-induced apoptosis, indicating that it is the cause of the disease.

Clinical manifestations of pigment incontinence

This disease is a rare systemic disease, and the tendency of women is obvious. Because the abnormal gene is located on the X sex chromosome, the female is not serious because of the normal gene that exists on another X chromosome, and the male abnormal gene is located on the only X chromosome, so the condition is serious, often in the fetus Death is imminent, so it is more common in female patients.
The patient developed urticaria-like, vesicular-like, and verrucous dermatitis changes around the trunk about 2 weeks after birth. Secondary pigmented rashes often occur in the trunk, upper arms, and thighs. Pigmentation is like paprika or fountain-like, and the damage is not distributed along the skin lines or nerves. Pigment lasts for several years, leaving no trace after dissipating, or leaving pale pigmentation.
The symptoms of skin damage can be divided into 3 clinical stages, stage I: erythema and bullae, arranged in rows, either at birth or significantly within 2 weeks after birth, often affecting the limbs and trunk, without involving the face; stage II: keratosis Excessive verrucous rash and plaque damage, seen in 2/3 of patients, are rashes that occur in the same area after blisters. Verrucous lesions are similar to linear epidermal nevus. These lesions usually disappear at the age of one year, and a few last several years. There is widespread dispersal, irregular distribution or swirling pigmentation. Phase III: It is a peculiar reticular pigmentation, with the most significant damage to the trunk. Typically, hyperpigmentation is present at the nipples, and pigmentation in the groin and axilla is most characteristic.
Other skin changes include pseudoalopecia, chronic atrophic acral dermatitis-like skin atrophy, nail atrophy, nail dystrophy, subthyroid tumors with osteolytic damage, and palmar hyperhidrosis. 70% to 80% of patients have extracutaneous manifestations, which mostly involve teeth, central nervous system, eyes and bones.

Pigment incontinence diagnosis

A baby girl has bullae or linear nodules, or a combination of bullous and verrucous skin lesions, with characteristic pigmentation spots appearing, which is easier to diagnose.

Differential diagnosis of pigment incontinence

The disease needs to be differentially diagnosed with bullous epidermolysis, bullous pemphigoid in childhood, depigmented pigment incontinence, and Franceschetti-Jadasson syndrome.

Pigment incontinence treatment

There is no special treatment for this disease. It usually fades after 2 years of age, and in adulthood, there are no other discomforts except for some original complications. In the blister stage, attention should be paid to preventing secondary infections, and antibiotic ointments containing adrenocorticoids can be topically applied.

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