incontinentia pigmenti


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in·con·ti·nen·ti·a pig·men·'ti

[MIM*146150, MIM*308300, and MIM*308310]
a rare genodermatosis characterized by hyperpigmented lesions in linear, zebra stripe, and other bizarre configurations following the lines of Blaschko; occasionally accompanied by other developmental anomalies of the eyes, teeth, nails, skeleton, nails, heart. The dermatologic features involve four stages: stage I is characterized by erythema, vesicles, and pustules; stage II by papules, verrucous lesions, and hyperkeratosis; stage III by hyperpigmentation; and stage IV by pallor, atrophy, and scarring. Historically, there were thought to be two forms: the sporadic type of incontinentia pigmenti (IP1), which is now known to be hypomelanosis of Ito and the familial type (IP2), which is X-linked dominant and a genetic lethal in males.
See also: hypomelanosis of Ito.

incontinentia pigmenti

[inkon′tinen′shə pigmen′tī]
a male-lethal X-linked dominant syndrome with onset at birth or shortly thereafter, characterized by the presence of brown or slate-brown bands, whorls, swirls, or splatter-like hyperpigmented cutaneous lesions, preceded by vesiculobullous and verrucous inflammatory changes, often associated with developmental anomalies involving other structures, such as the hair, eyes, and skeletal and central nervous systems. Also called Bloch-Sulzberger incontinentia pigmenti, Bloch-Sulzberger syndrome.

IKBKG

A gene on chromosome Xq28 that encodes a regulatory subunit of the IKK core complex which plays a key role in the NF-kappa-B signalling pathway by phosphorylating inhibitors in the inhibitor/NF-kappa-B complex (comprised of 3 subunits: IKBKA (IKKalpha/IKK1), IKBKB (IKKbeta/IKK2) and IKBKG (NEMO)), causing inhibitor dissociation and NF-kappa-B activation. The NF-kappa-B signalling pathway is activated by multiple stimuli, including inflammatory cytokines, bacterial or viral products, DNA damage, or other cellular stresses.

Molecular pathology
IKBKG mutations are linked to:
• Ectodermal dysplasia anhidrotic with immunodeficiency X-linked;
• Ectodermal dysplasia anhidrotic with immunodeficiency-osteopetrosis-lymphoedema; and
• X-linked familial atypical micobacteriosis type 1.

Bloch,

Bruno, Swiss dermatologist, 1878-1933.
Bloch-Sulzberger disease - genodermatosis that may also involve other structures. Synonym(s): Asboe-Hansen disease; Bloch-Sulzberger syndrome; incontinentia pigmenti
Bloch-Sulzberger syndrome - Synonym(s): Bloch-Sulzberger disease

incontinentia pigmenti,

References in periodicals archive ?
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Retinal and other manifestations of incontinentia pigmenti (Bloch Sulzberger syndrome).
Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities.
With incontinentia pigmenti you'll have a staged eruption, with vesicles or pustules at the time of birth within the first weeks, followed by more warty or verrucous papules," said Dr.
Incontinentia Pigmenti This disorder is a genodermatosis characterized by a pigmentary change of the skin resulting in hyper-pigmented tattooing of the skin.
A case of incontinentia pigmenti achromians with acute lymphatic leukemia.
Incontinentia pigmenti is X-linked disorder affecting Skin, Hair, Teeth and Central Nervous System.
Incontinentia pigmenti is caused by a mutation in the IKBKG gene (also known as NEMO), which resides on the X chromosome.
10) Pitting has also been reported in patients with Reiter's syndrome (and other connective tissue disorders), sarcoidosis, pemphigus, alopecia areata, and incontinentia pigmenti.
Other anomalies included confirmed or probable incontinentia pigmenti (10.
Differential diagnoses considered were epidermal naevus, incontinentia pigmenti and linear and whorled naevoid hypermelanosis.
1,2) According to the literature, it has also been associated with some systemic conditions such as Mohr syndrome (Orofacial-digital talon cusp) (9), Sturge-weber syndrome (10), Rubinstein-Taybi syndrome (11), incontinentia pigmenti achromians and Ellis-Van creveld syndrome.