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Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome(KLICK)

MedGen UID:
356430
Concept ID:
C1866029
Disease or Syndrome
Synonyms: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK SYNDROME
SNOMED CT: KLICK syndrome (763775000); Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (763775000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): POMP (13q12.3)
 
Monarch Initiative: MONDO:0011169
OMIM®: 601952
Orphanet: ORPHA281201

Definition

An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. [from SNOMEDCT_US]

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.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
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.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Hyperconvex nail
MedGen UID:
488894
Concept ID:
C0423807
Finding
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
Linear arrays of macular hyperkeratoses in flexural areas
MedGen UID:
355608
Concept ID:
C1866031
Finding
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  
  • CROGVKeratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Follow this link to review classifications for Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome in Orphanet.

Professional guidelines

PubMed

Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article
Shwayder T
Am J Clin Dermatol 2004;5(1):17-29. doi: 10.2165/00128071-200405010-00004. PMID: 14979740

Recent clinical studies

Etiology

Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J
BMC Med Genomics 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512Free PMC Article
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Has C, Technau-Hafsi K
J Dtsch Dermatol Ges 2016 Feb;14(2):123-39; quiz 140. doi: 10.1111/ddg.12930. PMID: 26819106
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Gonzalez ME, Tlougan BE, Price HN, Patel R, Kamino H, Schaffer JV
Dermatol Online J 2009 Aug 15;15(8):11. PMID: 19891919

Diagnosis

Huang YY, Li JH
JAMA Dermatol 2024 Feb 1;160(2):218-219. doi: 10.1001/jamadermatol.2023.4152. PMID: 38055272
Lee TL, Lin PH, Chen PL, Hong JB, Wu CC
Genes (Basel) 2020 Dec 30;12(1) doi: 10.3390/genes12010043. PMID: 33396879Free PMC Article
Thomas BR, O'Toole EA
Acta Derm Venereol 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430. PMID: 32147745Free PMC Article
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Therapy

Martin SJ, Duvic M
Int J Dermatol 2012 Oct;51(10):1195-8. doi: 10.1111/j.1365-4632.2011.05204.x. PMID: 22994666
Degen A, Alter M, Schenck F, Satzger I, Völker B, Kapp A, Gutzmer R
J Dtsch Dermatol Ges 2010 Sep;8(9):652-61. Epub 2010 May 6 doi: 10.1111/j.1610-0387.2010.07449.x. PMID: 20482685
Braun-Falco M
J Dtsch Dermatol Ges 2009 Nov;7(11):971-84; quiz 984-5. doi: 10.1111/j.1610-0387.2009.07058.x. PMID: 19341430
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Prognosis

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P
J Invest Dermatol 2017 Apr;137(4):845-854. Epub 2016 Dec 23 doi: 10.1016/j.jid.2016.12.010. PMID: 28017832Free PMC Article
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Adhisivam B, Mahadevan S
Indian J Pediatr 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834. PMID: 16816500
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

Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B
Am J Med Genet A 2022 Jun;188(6):1752-1760. Epub 2022 Feb 25 doi: 10.1002/ajmg.a.62703. PMID: 35212137
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A
J Invest Dermatol 2019 Feb;139(2):380-390. Epub 2018 Oct 12 doi: 10.1016/j.jid.2018.08.026. PMID: 30321533Free PMC Article
Köse O, Safali M, Koç E, Arca E, Açikgöz G, Özmen I, Yeniay Y
J Eur Acad Dermatol Venereol 2012 Jul;26(7):844-8. Epub 2011 Jun 29 doi: 10.1111/j.1468-3083.2011.04166.x. PMID: 21711468
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

Recent systematic reviews

Polivka L, Bodemer C, Hadj-Rabia S
J Med Genet 2016 May;53(5):289-95. Epub 2015 Sep 23 doi: 10.1136/jmedgenet-2015-103403. PMID: 26399581

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