incontinentia pigmenti

(redirected from Bloch-Sulzberger disease)

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