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Loricrin keratoderma

MedGen UID:
395099
Concept ID:
C1858805
Disease or Syndrome
Synonyms: VOHWINKEL SYNDROME WITH ICHTHYOSIS; Vohwinkel syndrome, variant form
SNOMED CT: Keratoderma hereditarium mutilans with ichthyosis syndrome (717183001); Camisa disease (717183001); Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome (717183001); Vohwinkel ichthyosis syndrome (717183001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): LORICRIN (1q21.3)
 
Monarch Initiative: MONDO:0011396
OMIM®: 604117
Orphanet: ORPHA79395

Definition

Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996). [from OMIM]

Additional description

From MedlinePlus Genetics
In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss.

The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.

Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin.  https://medlineplus.gov/genetics/condition/vohwinkel-syndrome

Clinical features

From HPO
Honeycomb palmoplantar hyperkeratosis
MedGen UID:
1787619
Concept ID:
C5539406
Disease or Syndrome
Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.
Amniotic constriction ring
MedGen UID:
315953
Concept ID:
C1527388
Congenital Abnormality
Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoricrin keratoderma
Follow this link to review classifications for Loricrin keratoderma in Orphanet.

Recent clinical studies

Etiology

Shirahama T, Hamada T, Abe T, Arakawa M, Teye K, Koga H, Ishii N, Nakama T
J Dermatol 2022 Aug;49(8):783-786. Epub 2022 Apr 25 doi: 10.1111/1346-8138.16405. PMID: 35467044
Suzuki S, Nomura T, Miyauchi T, Takeda M, Fujita Y, Nishie W, Akiyama M, Ishida-Yamamoto A, Shimizu H
Life Sci Alliance 2019 Feb;2(1) Epub 2019 Feb 4 doi: 10.26508/lsa.201800284. PMID: 30718378Free PMC Article
Yeh JM, Yang MH, Chao SC
Clin Exp Dermatol 2013 Mar;38(2):147-50. Epub 2012 Jul 25 doi: 10.1111/j.1365-2230.2012.04426.x. PMID: 22831754
Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N
Br J Dermatol 2008 Sep;159(3):714-9. Epub 2008 Aug 21 doi: 10.1111/j.1365-2133.2008.08657.x. PMID: 18844868
Ishida-Yamamoto A
J Dermatol Sci 2003 Feb;31(1):3-8. doi: 10.1016/s0923-1811(02)00143-3. PMID: 12615358

Diagnosis

Shirahama T, Hamada T, Abe T, Arakawa M, Teye K, Koga H, Ishii N, Nakama T
J Dermatol 2022 Aug;49(8):783-786. Epub 2022 Apr 25 doi: 10.1111/1346-8138.16405. PMID: 35467044
Rice RH, Crumrine D, Uchida Y, Gruber R, Elias PM
Arch Dermatol Res 2005 Sep;297(3):127-33. Epub 2005 Sep 29 doi: 10.1007/s00403-005-0591-7. PMID: 16133457
Ishida-Yamamoto A
J Dermatol Sci 2003 Feb;31(1):3-8. doi: 10.1016/s0923-1811(02)00143-3. PMID: 12615358
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B
Pediatr Dermatol 2002 Jul-Aug;19(4):285-92. doi: 10.1046/j.1525-1470.2002.00085.x. PMID: 12220269
Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H
Br J Dermatol 2001 Oct;145(4):657-60. doi: 10.1046/j.1365-2133.2001.04412.x. PMID: 11703298

Therapy

Fontana E, Caroppo F, Belloni Fortina A
Acta Derm Venereol 2020 Sep 30;100(16):adv00272. doi: 10.2340/00015555-3618. PMID: 32852565Free PMC Article
Ishida-Yamamoto A, Kato H, Kiyama H, Armstrong DK, Munro CS, Eady RA, Nakamura S, Kinouchi M, Takahashi H, Iizuka H
J Invest Dermatol 2000 Dec;115(6):1088-94. doi: 10.1046/j.1523-1747.2000.00163.x. PMID: 11121146

Prognosis

Suzuki S, Nomura T, Miyauchi T, Takeda M, Fujita Y, Nishie W, Akiyama M, Ishida-Yamamoto A, Shimizu H
Life Sci Alliance 2019 Feb;2(1) Epub 2019 Feb 4 doi: 10.26508/lsa.201800284. PMID: 30718378Free PMC Article
Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N
Br J Dermatol 2008 Sep;159(3):714-9. Epub 2008 Aug 21 doi: 10.1111/j.1365-2133.2008.08657.x. PMID: 18844868
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B
Pediatr Dermatol 2002 Jul-Aug;19(4):285-92. doi: 10.1046/j.1525-1470.2002.00085.x. PMID: 12220269
Ishida-Yamamoto A, Kato H, Kiyama H, Armstrong DK, Munro CS, Eady RA, Nakamura S, Kinouchi M, Takahashi H, Iizuka H
J Invest Dermatol 2000 Dec;115(6):1088-94. doi: 10.1046/j.1523-1747.2000.00163.x. PMID: 11121146

Clinical prediction guides

Shirahama T, Hamada T, Abe T, Arakawa M, Teye K, Koga H, Ishii N, Nakama T
J Dermatol 2022 Aug;49(8):783-786. Epub 2022 Apr 25 doi: 10.1111/1346-8138.16405. PMID: 35467044
Gao X, Li H, Zhao S, Li X, Zhao J, Long Y, Zhang J, Liao Y, Li S, Guo K, Yi J, Chen S, Ma M
J Dermatol Sci 2022 Apr;106(1):37-44. Epub 2022 Mar 14 doi: 10.1016/j.jdermsci.2022.03.002. PMID: 35346558
Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N
Br J Dermatol 2008 Sep;159(3):714-9. Epub 2008 Aug 21 doi: 10.1111/j.1365-2133.2008.08657.x. PMID: 18844868
Ishida-Yamamoto A, Kato H, Kiyama H, Armstrong DK, Munro CS, Eady RA, Nakamura S, Kinouchi M, Takahashi H, Iizuka H
J Invest Dermatol 2000 Dec;115(6):1088-94. doi: 10.1046/j.1523-1747.2000.00163.x. PMID: 11121146
Ishida-Yamamoto A, Takahashi H, Iizuka H
Eur J Dermatol 2000 Aug;10(6):429-35. PMID: 10980462

Recent systematic reviews

Catunda R, Rekhi U, Clark D, Levin L, Febbraio M
J Dtsch Dermatol Ges 2019 Dec;17(12):1227-1238. Epub 2019 Dec 17 doi: 10.1111/ddg.14001. PMID: 31846220

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