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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
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.