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Hereditary palmoplantar keratoderma

MedGen UID:
590657
•Concept ID:
C0406757
•
Congenital Abnormality
Synonyms: Hereditary keratosis palmoplantaris; hereditary keratosis palmoplantaris; Hereditary palmoplantar hyperkeratosis; hereditary palmoplantar hyperkeratosis; hereditary palmoplantar keratoderma; hereditary palmoplantar keratosis; Hereditary PPK; hereditary PPK
SNOMED CT: Hereditary palmoplantar keratoderma (239066003)
 
Monarch Initiative: MONDO:0019272
Orphanet: ORPHA79357

Definition

An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.
Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA
Br J Dermatol 2021 Mar;184(3):393-400. Epub 2020 Jun 17 doi: 10.1111/bjd.19144. PMID: 32307694
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T, Kubo A
J Dermatol 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219. PMID: 26945534
Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid.
Fritsch P, Hönigsmann H, Jaschke E
Br J Dermatol 1978 Nov;99(5):561-8. doi: 10.1111/j.1365-2133.1978.tb02025.x. PMID: 152116

Recent clinical studies

Etiology

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.
Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA
Br J Dermatol 2021 Mar;184(3):393-400. Epub 2020 Jun 17 doi: 10.1111/bjd.19144. PMID: 32307694
Mal de Meleda: A great imitator.
Bakija-Konsuo A, Zitinski M, Fatovic-Ferencic S
Clin Dermatol 2019 May-Jun;37(3):175-181. Epub 2019 Jan 11 doi: 10.1016/j.clindermatol.2019.01.003. PMID: 31178100
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T, Kubo A
J Dermatol 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219. PMID: 26945534
Synkinetic blepharoclonus.
Jacome DE
J Neuroophthalmol 2000 Dec;20(4):276-84. PMID: 11130758
Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?
Hamm H, Happle R, Butterfass T, Traupe H
Dermatologica 1988;177(3):138-45. doi: 10.1159/000248531. PMID: 2971584

Diagnosis

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1874-1880. Epub 2021 May 21 doi: 10.1111/jdv.17314. PMID: 33914963
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T, Kubo A
J Dermatol 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219. PMID: 26945534
Synkinetic blepharoclonus.
Jacome DE
J Neuroophthalmol 2000 Dec;20(4):276-84. PMID: 11130758
Dermacase. Hereditary palmoplantar keratoderma.
Adams SP
Can Fam Physician 1997 Jul;43:1219, 1225. PMID: 9241457Free PMC Article
Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?
Hamm H, Happle R, Butterfass T, Traupe H
Dermatologica 1988;177(3):138-45. doi: 10.1159/000248531. PMID: 2971584

Therapy

Improvement of hereditary palmoplantar keratoderma with oral trametinib.
Song H, Dzuali F, Chi SN, Treat JR, Huang JT
Pediatr Dermatol 2019 Jan;36(1):e48-e49. Epub 2018 Dec 12 doi: 10.1111/pde.13731. PMID: 30548577
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
Sehgal VN, Sardana K, Sharma S, Raut D
Skinmed 2004 Nov-Dec;3(6):323-30; quiz 331-2. doi: 10.1111/j.1540-9740.2004.03243.x. PMID: 15538081
Hereditary palmoplantar keratoderma (four cases in three generations).
Sehgal VN, Kumar S, Narayan S
Int J Dermatol 2001 Feb;40(2):130-2. doi: 10.1046/j.1365-4362.2001.01116.x. PMID: 11328395
Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study.
Kragballe K, Steijlen PM, Ibsen HH, van de Kerkhof PC, Esmann J, Sorensen LH, Axelsen MB
Arch Dermatol 1995 May;131(5):556-60. PMID: 7741542
Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid.
Fritsch P, Hönigsmann H, Jaschke E
Br J Dermatol 1978 Nov;99(5):561-8. doi: 10.1111/j.1365-2133.1978.tb02025.x. PMID: 152116

Prognosis

Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema.
Ogunbiyi SO, Deguara J, Moss C, Burnand KG
Lymphology 2009 Jun;42(2):85-7. PMID: 19725273
Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
Dermatology 2008;217(1):58-62. Epub 2008 Apr 9 doi: 10.1159/000124340. PMID: 18401176
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
Sehgal VN, Sardana K, Sharma S, Raut D
Skinmed 2004 Nov-Dec;3(6):323-30; quiz 331-2. doi: 10.1111/j.1540-9740.2004.03243.x. PMID: 15538081
Congenital heart disease in tylosis: case report.
Wong ML, Tay JS
J Singapore Paediatr Soc 1991;33(1-2):45-8. PMID: 1784110

Clinical prediction guides

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1874-1880. Epub 2021 May 21 doi: 10.1111/jdv.17314. PMID: 33914963
Improvement of hereditary palmoplantar keratoderma with oral trametinib.
Song H, Dzuali F, Chi SN, Treat JR, Huang JT
Pediatr Dermatol 2019 Jan;36(1):e48-e49. Epub 2018 Dec 12 doi: 10.1111/pde.13731. PMID: 30548577
Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
Dermatology 2008;217(1):58-62. Epub 2008 Apr 9 doi: 10.1159/000124340. PMID: 18401176
Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal de Meleda).
Mozzillo N, Nunziata CA, Caracò C, Fazioli F, Botti G; Melanoma Cooperative Group
J Surg Oncol 2003 Dec;84(4):229-33. doi: 10.1002/jso.10317. PMID: 14756434
Hereditary palmoplantar keratoderma, type papulosa, in Croatia.
Stanimirović A, Kansky A, Basta-Juzbasić A, Skerlev M, Beck T
J Am Acad Dermatol 1993 Sep;29(3):435-7. doi: 10.1016/0190-9622(93)70207-a. PMID: 8349860

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