Epidermolysis bullosa simplex with mottled pigmentation

Also Known As:

Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 759
      - Epidermolysis Bullosa Simplex: 350
        Epidermolysis bullosa simplex with mottled pigmentation: 8
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Epidermolysis Bullosa: 759
      - Epidermolysis Bullosa Simplex: 350
        Epidermolysis bullosa simplex with mottled pigmentation: 8
Skin and Connective Tissue Diseases
- Skin Diseases: 13127

Related Diseases

1.	Wounds and Injuries (Trauma)
2.	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
3.	Ichthyosis (Xeroderma)
4.	Blister (Bulla)
5.	Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Experts

1.	Richard, Gabriele: 2 articles (03/2006 - 01/2006)
2.	Chao, Jen-Ping: 1 article (02/2022)
3.	Chiang, Cheng-Ying: 1 article (02/2022)
4.	Hong, Jin-Bon: 1 article (02/2022)
5.	Hsieh, Tyng-Shiuan: 1 article (02/2022)
6.	Lin, Jing-Yi: 1 article (02/2022)
7.	Lin, Sung-Jan: 1 article (02/2022)
8.	Geller, Lauren: 1 article (09/2013)
9.	Kristal, Leonard: 1 article (09/2013)
10.	Morel, Kimberly D: 1 article (09/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Epidermolysis bullosa simplex with mottled pigmentation:

1.	Keratin-5 (Keratin 5)IBA 09/01/2013 - "Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy." 11/01/2006 - "Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient." 07/01/2005 - "Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation." 05/01/1997 - "A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation." 03/01/2006 - "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP), characterized by trauma-induced blisters, distinct pigmentary changes of the trunk and extremities, and acral hyperkeratotic papules, is almost exclusively caused by a common KRT5 missense mutation affecting the V1 region of keratin 5. We studied the first Hispanic family, the largest single generation of affected family members in which 5 out of 10 siblings inherited EBS-MP from their affected father, as well a second large pedigree, the first reported of Finnish ancestry. "
2.	Keratin-1IBA 01/01/2006 - "Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). "
3.	Keratin-14 (Keratin 14)IBA 12/01/2011 - "To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation. " 12/01/2011 - "[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation]."
4.	Melanins (Melanin)IBA 02/01/2022 - "Assessment of melanin distribution in epidermolysis bullosa simplex with mottled pigmentation: A case report."