Meleda disease
Meleda disease |
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Classification and external resources |
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ICD-10 |
Q82.8 (ILDS Q82.834) |
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OMIM |
248300 |
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Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of siemens,[1] (also known as "Acral keratoderma,"[2] "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type,"[2] "Palmoplantar ectodermal dysplasia type VIII",[2]:508 and "Palmoplantar keratoderma of the Norrbotten type"[3]) is an extremely rare autosomal recessive[4] congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.[5]:214
Genetic prevalence
Meleda disease has an autosomal recessive pattern of
inheritance.
MDM is most common on the Dalmatian island of Mljet (or Meleda), thought to be because of a founder effect. It is of autosomal recessive inheritance. It may be caused by a mutation on the SLURP1 gene, located on chromosome 8.[6]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 248300
- ↑ 2.0 2.1 2.2 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 778, 781. ISBN 1-4160-2999-0.
- ↑ Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'Homme JF (April 2001). "Mutations in the gene encoding SLURP-1 in Mal de Meleda" (Free full text). Human Molecular Genetics 10 (8): 875–880. doi:10.1093/hmg/10.8.875. ISSN 0964-6906. PMID 11285253.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ http://ghr.nlm.nih.gov/gene/SLURP1
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| Genodermatosis | Congenital ichthyosis/ erythrokeratodermia | |
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| EB and related |
- EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP
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| Ectodermal dysplasia | |
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| Elastic/Connective | |
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| Hyperkeratosis/ keratinopathy | PPK |
- diffuse: Diffuse epidermolytic palmoplantar keratoderma
- Diffuse nonepidermolytic palmoplantar keratoderma
- Palmoplantar keratoderma of Sybert
- Mal de Meleda
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| Other | |
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| Other |
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
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| Developmental anomalies | Midline | |
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| Nevus | |
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| Other/ungrouped | |
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| Description |
- Anatomy
- Physiology
- Development
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| Disease |
- Infections
- Vesiculobullous
- Dermatitis and eczema
- Papulosquamous
- Urticaria and erythema
- Radiation-related
- Pigmentation
- Mucinoses
- Keratosis, ulcer, atrophy, and necrobiosis
- Vasculitis
- Fat
- Neutrophilic and eosinophilic
- Congenital
- Neoplasms and cancer
- nevi and melanomas
- epidermis
- dermis
- Symptoms and signs
- Terminology
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| Treatment |
- Procedures
- Drugs
- antibiotics
- disinfectants
- emollients and protectives
- itch
- psoriasis
- other
- Wound and ulcer
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