acral type Peeling skin syndrome
An autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In the acral type (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis. Mutations in the TGM5 gene have been identified. OMIM: 609796
Also Known As:
Peeling skin syndrome, acral type; Acral peeling skin syndrome; Peeling skin syndrome 2
Networked: 7
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Akhapkina, Tatiana A:
1 article
(07/2019)
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2. | Aleksakhina, Svetlana N:
1 article
(07/2019)
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3. | Anisimova, Maria O:
1 article
(07/2019)
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4. | Bizin, Ilya V:
1 article
(07/2019)
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5. | Holmatov, Maxim M:
1 article
(07/2019)
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6. | Imyanitov, Evgeny N:
1 article
(07/2019)
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7. | Iyevleva, Aglaya G:
1 article
(07/2019)
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8. | Koloskov, Andrey V:
1 article
(07/2019)
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9. | Kuligina, Ekaterina Sh:
1 article
(07/2019)
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10. | Matsneva, Maria A:
1 article
(07/2019)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to acral type Peeling skin syndrome:
1. | transglutaminase 5IBA
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2. | Cystatin AIBA
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3. | Nonsense Codon (Nonsense Mutation)IBA
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4. | Proteins (Proteins, Gene)FDA Link
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5. | Complement C2 (Complement Component 2)IBA
07/01/2019
- " In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). "
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6. | Complement System Proteins (Complement)IBA
07/01/2019
- " In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). "
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