Acral peeling skin syndrome
- Synonyms
- Peeling skin syndrome 2; Peeling skin syndrome, acral type (subtype)
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Jodi Y So
- Joyce Teng
- view full author information
Available tests
35 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (35 available)
Clinical features
Help- Abnormality of the integument
- Abnormal nail morphology
Abnormal nail morphology
- MedGen UID: 163115
- Concept ID: C0853087
- Finding: Anatomical Abnormality
Abnormality of the integument
- Cleavage at junction of stratum corneum and stratum granulosum
Cleavage at junction of stratum corneum and stratum granulosum
- MedGen UID: 395597
- Concept ID: C2678352
- Finding: Finding
Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Scaling skin
Scaling skin
- MedGen UID: 472970
- Concept ID: C0237849
- Finding: Finding
Abnormality of the integument
- Abnormal nail morphology
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