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Diseases

Bloch Sulzberger syndrome

bloch sulzberger syndrome

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Bloch Sulzberger syndrome
Standard Disease Name
bloch sulzberger syndrome
MeSH Tree
No data
ICD-10
Q82.3

Identifiers

DO ID
No data
MeSH ID
D007184
OMIM ID
308300|300248
UMLS ID
C0021171
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.|MSH2017_2016_08_12:A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.|JABL99:A skin pigmentation disorder with malformations of the eyes, teeth, bones, nails, heart, central nervous system, and hair. Mental deficiency is usually associated. The syndrome is divided into two forms: Incontinentia pigmenti type I and type II which lethal in males.