Palmoplantar keratoderma

Palmoplantar keratoderma

A picture of a 40 y/o Caucasian female with only the soles of the feet affected. The amputation was prior to this admission
Classification and external resources
Specialty dermatology
ICD-10 L85.1-L85.2, Q82.8
ICD-9-CM 701.1, 757.39
OMIM 144200 600962
DiseasesDB 32042
eMedicine derm/589
MeSH D007645

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.

Autosomal recessive and dominant, X-linked, and acquired forms have all been described.[1]:505[2]:211[3]

Clinical patterns

Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate.[1]:505

Diffuse

Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life.[1]:505 Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles.[4] The two major types can have a similar clinical appearance:[4]

Focal

Focal palmoplantar keratoderma, a type of palmoplantar keratoderma in which large, compact masses of keratin develop at sites of recurrent friction, principally on the feet, although also on the palms and other sites, a pattern of calluses that may be discoid (nummular) or linear.

Punctate

Punctate palmoplantar keratoderma is a form of palmoplantar keratoderma in which many tiny "raindrop" keratoses involve the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.[1]:505[4]

Ungrouped

Genetics

Epidermolytic palmoplantar keratoderma has been associated with keratin 9 and keratin 16.[21]

Nonepidermolytic palmoplantar keratoderma has been associated with keratin 1 and keratin 16.[22]

See also

References

  1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. 1 2 3 4 5 6 7 8 9 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. Patel S, Zirwas M, English JC (2007). "Acquired palmoplantar keratoderma". Am J Clin Dermatol 8 (1): 1–11. doi:10.2165/00128071-200708010-00001. PMID 17298101.
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 740. ISBN 1-4160-2999-0.
  5. Ryan P, Baird G, Benfanti P (March 2007). "Hereditary painful callosities: case report and review of the literature". Foot Ankle Int 28 (3): 377–8. doi:10.3113/FAI.2007.0377. PMID 17371662.
  6. Martinez-Mir A, Zlotogorski A, Londono D, et al. (December 2003). "Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24". J. Med. Genet. 40 (12): 872–8. doi:10.1136/jmg.40.12.872. PMC 1735333. PMID 14684683.
  7. Erkek E, Koçak M, Bozdoğan O, Atasoy P, Birol A (2004). "Focal acral hyperkeratosis: a rare cutaneous disorder within the spectrum of Costa acrokeratoelastoidosis". Pediatr Dermatol 21 (2): 128–30. doi:10.1111/j.0736-8046.2004.21208.x. PMID 15078352.
  8. Leonard AL, Freedberg IM (October 2003). "Palmoplantar keratoderma of Sybert". Dermatol. Online J. 9 (4): 30. PMID 14594603.
  9. synd/1800 at Who Named It?
  10. Griether A (May 1952). "[Keratosis extremitatum hereditaria progrediens with genetic dominant.]". Hautarzt 3 (5): 198–203. PMID 14945735.
  11. Gach JE, Munro CS, Lane EB, Wilson NJ, Moss C (November 2005). "Two families with Greither's syndrome caused by a keratin 1 mutation". J. Am. Acad. Dermatol. 53 (5 Suppl 1): S225–30. doi:10.1016/j.jaad.2005.01.139. PMID 16227096.
  12. Sybert VP, Dale BA, Holbrook KA (January 1988). "Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study". J. Am. Acad. Dermatol. 18 (1 Pt 1): 75–86. doi:10.1016/S0190-9622(88)70012-2. PMID 2450111.
  13. Lee YA, Stevens HP, Delaporte E, Wahn U, Reis A (January 2000). "A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23". Am. J. Hum. Genet. 66 (1): 326–30. doi:10.1086/302718. PMC 1288338. PMID 10631162.
  14. Huriez C, Deminatti M, Agache P, Menecier F (1968). "[Une genodysplasie non encore individualisee: la genodermatose sclero-atrophiante et keratodermique des extremites frequemment degenerative.]". Semaine des Hôpitaux de Paris (in French) 44 (6): 481–488. PMID 4298032.
  15. Maestrini E, Korge BP, Ocaña-Sierra J, et al. (July 1999). "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families". Hum. Mol. Genet. 8 (7): 1237–43. doi:10.1093/hmg/8.7.1237. PMID 10369869.
  16. Vohwinkel, K.H. (1929). "Keratoma hereditarium mutilans". Archiv für Dermatologie und Syphilis 158: 354–364. doi:10.1007/bf01826619.
  17. P Kumar, PK Sharma, HK Kar. Olmsted Syndrome. Ind J Dermatol, 2008 ;53(2): 93-5. PMID 19881998.10.4103/0019-5154.41657. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2763718/
  18. Dessureault J, Poulin Y, Bourcier M, Gagne E (2003). "Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma". J Cutan Med Surg 7 (3): 236–42. doi:10.1007/s10227-002-0107-4. PMID 12704531.
  19. Lin, Zhimiao; Chen, Quan; Lee, Mingyang; Cao, Xu; Zhang, Jie; Ma, Donglai; Chen, Long; Hu, Xiaoping; Wang, Huijun (2012-03-09). "Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome". American Journal of Human Genetics 90 (3): 558–564. doi:10.1016/j.ajhg.2012.02.006. ISSN 1537-6605. PMC 3309189. PMID 22405088.
  20. Garçon-Michel N, Roguedas-Contios AM, Rault G, et al. (March 2010). "Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis?". Br J Dermatol 163 (1): no–no. doi:10.1111/j.1365-2133.2010.09764.x. PMID 20302572.
  21. Online 'Mendelian Inheritance in Man' (OMIM) 144200
  22. Online 'Mendelian Inheritance in Man' (OMIM) 600962
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