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Pachyonychia congenita 1(PC1)

MedGen UID:
353335
Concept ID:
C1706595
Disease or Syndrome
Synonyms: Jadassohn Lewandowsky syndrome; KRT16-Related Pachyonychia Congenita; KRT6A-Related Pachyonychia Congenita; Pachyonychia congenita Jadassohn Lewandowsky type; PACHYONYCHIA CONGENITA, LATE ONSET; PC1
SNOMED CT: Jadassohn-Lewandowsky syndrome (39427000)
 
Gene (location): KRT16 (17q21.2)
 
Monarch Initiative: MONDO:0008173
OMIM®: 167200

Disease characteristics

Excerpted from the GeneReview: Pachyonychia Congenita
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. [from GeneReviews]
Authors:
Frances JD Smith  |  C David Hansen  |  Peter R Hull, et. al.   view full author information

Additional descriptions

From OMIM
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis. PC type 2, the Jackson-Lawler type, has natal teeth and epidermoid cysts (cylindromas), but no oral leukoplakia. Corneal dystrophy may be a feature exclusively of the Jackson-Lawler type. Smith et al. (1998) stated that PC type 2, in contrast to PC type 1, has minimal oral involvement and milder keratoderma, and multiple steatocystomas (184500) is a major clinical feature. Steatocystoma, also known as eruptive vellus cyst, is a cystic hamartoma lined by sebaceous ductal epithelium. On the basis of a study of 13 patients with PC type 1 or type 2, Terrinoni et al. (2001) concluded that the presence of pilosebaceous cysts following puberty is the best indicator of PC type 2; prepubescent patients are more difficult to classify due to the lack of cysts. Natal teeth are indicative of PC type 2, although their absence does not preclude the PC type 2 diagnosis. Genetic Heterogeneity of Pachyonychia Congenita See pachyonychia congenita-2 (PC2; 167210), caused by mutation in the KRT17 gene (148069) on chromosome 17; PC3 (615726), caused by mutation in the KRT6A gene (148041) on chromosome 2; and PC4 (615728), caused by mutation or in the KRT6B gene (148042) on chromosome 12. See 260130 for a possible autosomal recessive form of pachyonychia congenita.  http://www.omim.org/entry/167200
From MedlinePlus Genetics
Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can also affect the voice box (larynx), causing hoarseness or breathing problems.

Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the signs and symptoms of the types overlapped considerably. Pachyonychia congenita is now classified into five types based on the gene that is altered.

Pachyonychia congenita can have several additional features. These features include thickened skin on the palms of the hands (palmar keratoderma), which can be painful; thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps that develop around hair follicles (follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis).

Most people with pachyonychia congenita also show some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. The number of affected nails varies.

Almost everyone with pachyonychia congenita develops very painful calluses on the soles of the feet. This condition is known as plantar keratoderma. Calluses usually begin to form on the feet in childhood when kids first start to walk. The calluses can make walking painful or impossible. In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the calluses, increasing pain and discomfort.

Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.  https://medlineplus.gov/genetics/condition/pachyonychia-congenita

Clinical features

From HPO
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.
Oral mucosa leukoplakia
MedGen UID:
9738
Concept ID:
C0023532
Neoplastic Process
A thickened white patch on the oral mucosa that cannot be rubbed off.
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.
Onychogryposis
MedGen UID:
82671
Concept ID:
C0263537
Disease or Syndrome
Nail that appears thick when viewed on end.
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.

Professional guidelines

PubMed

Wu TT, Eldirany SA, Bunick CG, Teng JMC
J Invest Dermatol 2021 Dec;141(12):2876-2884.e4. Epub 2021 Jun 8 doi: 10.1016/j.jid.2021.03.035. PMID: 34116063Free PMC Article
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C
J Investig Dermatol Symp Proc 2005 Oct;10(1):18-20. doi: 10.1111/j.1087-0024.2005.10203.x. PMID: 16250205

Recent clinical studies

Etiology

Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV
Pediatr Neonatol 2023 Jul;64(4):405-410. Epub 2023 Jan 3 doi: 10.1016/j.pedneo.2022.09.018. PMID: 36658016
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
McLean WH, Hansen CD, Eliason MJ, Smith FJ
J Invest Dermatol 2011 May;131(5):1015-7. Epub 2011 Mar 24 doi: 10.1038/jid.2011.59. PMID: 21430705
Feinstein A, Friedman J, Schewach-Millet M
J Am Acad Dermatol 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1. PMID: 3053803

Diagnosis

Tan Y, Ma DL
Indian J Pediatr 2024 Mar;91(3):300-301. Epub 2023 Jun 8 doi: 10.1007/s12098-023-04567-z. PMID: 37289311
Pavlovsky M, Peled A, Sarig O, Astman N, Malki L, Meijers O, Assaf S, Schwartz J, Malovitski K, Hansen D, Sprecher E, Samuelov L
Br J Dermatol 2022 Sep;187(3):392-400. Epub 2022 Jun 17 doi: 10.1111/bjd.21674. PMID: 35606927Free PMC Article
Steele L, O'Toole EA
Br J Dermatol 2020 Mar;182(3):521-522. doi: 10.1111/bjd.18817. PMID: 32107781
Yang L, Zhang S, Wang G
J Pathol 2019 Feb;247(2):158-165. Epub 2018 Dec 7 doi: 10.1002/path.5178. PMID: 30306595
Piraccini BM, Starace M
Curr Opin Pediatr 2014 Aug;26(4):440-5. doi: 10.1097/MOP.0000000000000116. PMID: 24886951

Therapy

Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Piraccini BM, Starace M
Curr Opin Pediatr 2014 Aug;26(4):440-5. doi: 10.1097/MOP.0000000000000116. PMID: 24886951
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491
Hannaford RS, Stapleton K
Australas J Dermatol 2000 Aug;41(3):175-7. doi: 10.1046/j.1440-0960.2000.00425.x. PMID: 10954990
Silverman AK, Fairley J, Wong RC
J Am Acad Dermatol 1988 Apr;18(4 Pt 1):721-41. doi: 10.1016/s0190-9622(88)70096-1. PMID: 2967311

Prognosis

Samuelov L, Smith FJD, Hansen CD, Sprecher E
Br J Dermatol 2020 Mar;182(3):738-746. Epub 2020 Jan 14 doi: 10.1111/bjd.18794. PMID: 31823354
Yang L, Zhang S, Wang G
J Pathol 2019 Feb;247(2):158-165. Epub 2018 Dec 7 doi: 10.1002/path.5178. PMID: 30306595
Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS
JAMA Dermatol 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448. PMID: 24132595
Chen J, Roop DR
J Investig Dermatol Symp Proc 2005 Oct;10(1):37-46. doi: 10.1111/j.1087-0024.2005.10206.x. PMID: 16250208

Clinical prediction guides

Porter RM, Bravo AA, Smith FJD
J Am Podiatr Med Assoc 2017 Sep;107(5):428-435. doi: 10.7547/16-043. PMID: 29077501
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Knöbel M, O'Toole EA, Smith FJ
Cell Tissue Res 2015 Jun;360(3):583-9. Epub 2015 Jan 27 doi: 10.1007/s00441-014-2105-4. PMID: 25620412
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB
J Investig Dermatol Symp Proc 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. PMID: 16250204
Su WP, Chun SI, Hammond DE, Gordon H
Pediatr Dermatol 1990 Mar;7(1):33-8. doi: 10.1111/j.1525-1470.1990.tb01070.x. PMID: 2140447

Recent systematic reviews

Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Tatiane A, Slape D, Lawless R, Frew JW
Clin Exp Dermatol 2019 Aug;44(6):606-612. Epub 2019 May 10 doi: 10.1111/ced.13980. PMID: 31074523
Torchia D, Vega J, Schachner LA
Am J Clin Dermatol 2012 Feb 1;13(1):19-28. doi: 10.2165/11589050-000000000-00000. PMID: 21958358

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