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.

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
References in periodicals archive ?
Sangili, "Incontinentia pigmenti: a rare genodermatosis in a male child," Journal of Clinical and Diagnostic Research, vol.
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
(28.) Happle R: A fresh look at incontinentia pigmenti. Arch Dermatol 2003;139:1206-8.
Biopsy of these lesions showed different stages of skin lesions consistent with incontinentia pigmenti. There was no vision in the left eye due to retinal detachment at the age of 1.5 yr.
Nail dystrophy, an unusual presentation of incontinentia pigmenti. Br J Dermatol 2003;149:1286-8.
"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 (IP), also known as Bloch-Sulzberger syndrome, is a rare, X-linked, dominant condition characterised by developmental abnormalities of the skin, hair, teeth, and central nervous system (CNS).
Oligodontia can occur in association with genetic syndromes such as ectodermal dysplasia, incontinentia pigmenti, Down syndrome and Rieger syndrome or as a non syndromic isolated familial triat or as a sporadic finding.
Siegel went on to discuss incontinentia pigmenti, which is caused by a genomic rearrangement of the gene for nuclear factor kappa beta essential modulator and has an incidence of 1:40,000.
(10) Pitting has also been reported in patients with Reiter's syndrome (and other connective tissue disorders), sarcoidosis, pemphigus, alopecia areata, and incontinentia pigmenti. (5)