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Ichthyosis with erythrokeratoderma(IEKD)

MedGen UID:
1852819
Concept ID:
C5882691
Disease or Syndrome
Synonym: IEKD
 
Gene (location): KLK11 (19q13.41)
 
Monarch Initiative: MONDO:0957783
OMIM®: 620507

Definition

Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant disorder of cornification characterized by abnormal desquamation in addition to erythematous hyperkeratotic plaques or patches. Lesions are present at birth or appear soon after (Gong et al., 2023; Takeichi et al., 2023). [from OMIM]

Clinical features

From HPO
Diffuse palmoplantar hyperkeratosis
MedGen UID:
7201
Concept ID:
C0022584
Disease or Syndrome
Diffuse abnormal thickening of the skin on the palms and soles.
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
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.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Congenital ichthyosiform erythroderma
MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Nail pits
MedGen UID:
57463
Concept ID:
C0150993
Finding
Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
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.

Professional guidelines

PubMed

Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A
Dermatology 2024;240(1):170-177. Epub 2023 Sep 4 doi: 10.1159/000533934. PMID: 37666225
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

Ma H, Liang P, Chen J, Feng P, Lai W
J Dermatol 2017 Nov;44(11):1255-1261. Epub 2017 Jun 21 doi: 10.1111/1346-8138.13926. PMID: 28635012
Patel V, Sun G, Dickman M, Khuu P, Teng JM
Dermatol Ther 2015 Mar-Apr;28(2):89-93. Epub 2014 Dec 29 doi: 10.1111/dth.12192. PMID: 25546246
Yoo S, Simzar S, Han K, Takahashi S, Cotliar R
Pediatr Dermatol 2006 Jul-Aug;23(4):382-5. doi: 10.1111/j.1525-1470.2006.00252.x. PMID: 16918639
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Lavrijsen AP, Oestmann E, Hermans J, Boddé HE, Vermeer BJ, Ponec M
Br J Dermatol 1993 Nov;129(5):547-53. doi: 10.1111/j.1365-2133.1993.tb00482.x. PMID: 8251350

Diagnosis

Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, Park JS, Saeidian AH, Mahmoudi H, Saffarian Z, Naraghi ZS, Kamyab-Hesari K, Zeinali S, Vahidnezhad H, Uitto J
J Eur Acad Dermatol Venereol 2022 Mar;36(3):472-479. Epub 2021 Dec 29 doi: 10.1111/jdv.17856. PMID: 34863005
Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP
J Invest Dermatol 2005 Nov;125(5):920-7. doi: 10.1111/j.0022-202X.2005.23919.x. PMID: 16297190
Ahmadi S, McKenna K
Clin Exp Dermatol 2003 Jul;28(4):394-6. doi: 10.1046/j.1365-2230.2003.01316.x. PMID: 12823302
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Therapy

Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A
Dermatology 2024;240(1):170-177. Epub 2023 Sep 4 doi: 10.1159/000533934. PMID: 37666225
Patel V, Sun G, Dickman M, Khuu P, Teng JM
Dermatol Ther 2015 Mar-Apr;28(2):89-93. Epub 2014 Dec 29 doi: 10.1111/dth.12192. PMID: 25546246
Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP
J Invest Dermatol 2005 Nov;125(5):920-7. doi: 10.1111/j.0022-202X.2005.23919.x. PMID: 16297190
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Tamayo L, Ruiz-Maldonado R
Dermatologica 1980;161(5):305-14. doi: 10.1159/000250382. PMID: 6449393

Prognosis

Sugiura K
J Dermatol Sci 2013 Mar;69(3):181-6. Epub 2013 Jan 4 doi: 10.1016/j.jdermsci.2012.12.002. PMID: 23352280
Itin PH, Moschopulos M, Richard G
Am J Med Genet A 2003 Jul 15;120A(2):237-40. doi: 10.1002/ajmg.a.20036. PMID: 12833406
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
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
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R
Pediatr Dermatol 1996 Mar-Apr;13(2):105-13. doi: 10.1111/j.1525-1470.1996.tb01414.x. PMID: 9122065

Clinical prediction guides

Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A
Dermatology 2024;240(1):170-177. Epub 2023 Sep 4 doi: 10.1159/000533934. PMID: 37666225
Pilz R, Opálka L, Majcher A, Grimm E, Van Maldergem L, Mihalceanu S, Schäkel K, Enk A, Aubin F, Bursztejn AC, Brischoux-Boucher E, Fischer J, Sandhoff R
Hum Mol Genet 2022 Mar 31;31(7):1105-1114. doi: 10.1093/hmg/ddab309. PMID: 34686882
Kutkowska-Kaźmierczak A, Niepokój K, Wertheim-Tysarowska K, Giza A, Mordasewicz-Goliszewska M, Bal J, Obersztyn E
J Appl Genet 2015 Aug;56(3):329-37. Epub 2015 Jan 10 doi: 10.1007/s13353-014-0266-1. PMID: 25575739Free PMC Article
Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat MA, Fischer J, Azon A
Br J Dermatol 2005 Oct;153(4):838-41. doi: 10.1111/j.1365-2133.2005.06828.x. PMID: 16181472
Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O
Am J Med Genet A 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515. PMID: 15633193

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