Palmoplantar keratoderma (PPK): Acquired and genetic causes of a not so rare disease

Stina Schiller, Christina Seebode, Hans Christian Hennies, Kathrin Giehl, Steffen Emmert

Research output: Contribution to journalReview article

19 Citations (Scopus)

Abstract

Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future.

Translated title of the contributionPalmoplantar keratoderma (PPK): Acquired and genetic causes of a not so rare disease
LanguageGerman
Pages781-788
Number of pages8
JournalJDDG - Journal of the German Society of Dermatology
Volume12
Issue number9
Early online date29 Aug 2014
DOIs
Publication statusPublished - Sep 2014
Externally publishedYes

Fingerprint

Palmoplantar Keratoderma
Rare Diseases
Genes
Counseling
Molecular Biology
Mutation
Therapeutics

Cite this

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title = "Palmoplantare Keratosen (PPK): Erworbene und genetische Ursachen eines gar nicht so seltenen Krankheitsbildes",
abstract = "Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future.",
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Palmoplantare Keratosen (PPK) : Erworbene und genetische Ursachen eines gar nicht so seltenen Krankheitsbildes. / Schiller, Stina; Seebode, Christina; Hennies, Hans Christian; Giehl, Kathrin; Emmert, Steffen.

In: JDDG - Journal of the German Society of Dermatology, Vol. 12, No. 9, 09.2014, p. 781-788.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Palmoplantare Keratosen (PPK)

T2 - JDDG - Journal of the German Society of Dermatology

AU - Schiller, Stina

AU - Seebode, Christina

AU - Hennies, Hans Christian

AU - Giehl, Kathrin

AU - Emmert, Steffen

N1 - No full text in Eprints. HN 17/11/2017

PY - 2014/9

Y1 - 2014/9

N2 - Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future.

AB - Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future.

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U2 - 10.1111/ddg.12418

DO - 10.1111/ddg.12418

M3 - Review article

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SP - 781

EP - 788

JO - JDDG - Journal of the German Society of Dermatology

JF - JDDG - Journal of the German Society of Dermatology

SN - 1610-0379

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ER -