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.

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.


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.


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,