Presentation
Oral, genital and follicular keratotic lesions are often present. [uniprot.org]
[More] Frequent observations of allelic loss in chromosomal band 17q25.1 in a variety of human cancers have suggested that one or more tumor suppressor genes are present in that region. [gulfdoctor.net]
However, a single oesophageal cancer was observed in an individual from the US family who did not present with the skin disorder. [academic.oup.com]
The disease is characterised by thickening of the pressure areas of the soles, but is not restricted to the feet and also presents with oral leukokeratosis and follicular hyperkeratosis. [ncbi.nlm.nih.gov]
Entire Body System
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Malnutrition
Various causes of acquired PPKs in childhood include: dermatoses-related (psoriasis, ichthyosis), PPK's associated with malnutrition, infections or systemic disease and idiopathic. [ijpd.in]
The acquired PPKs are as follows: Keratoderma climactericum, arsenical keratosis, aquagenic PPK, malignancy-associated PPK, malnutrition-associated PPK and drug-induced keratoderma. [dermatologyadvisor.com]
Gastrointestinal
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Failure to Thrive
Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more. [books.google.com]
Musculoskeletal
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Long Arm
arm of chromosome 17 (AFMa134wa9, AFMa312ya5, AFMb054zf9, AFMc008we1, D17S785, D17S801, D17S929, D17S937, D17S939, D17S1602, D17S1603). [academic.oup.com]
Tylosis in contrast remains the paradox as whilst the putative abnormality has been localized to the long arm of chromosome 17, sequencing of this region has failed to reveal a disease causing mutation. [cancer-genetics.org]
Neurologic
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Dysesthesia
[…] cutaneous diseases Arne Kanig and Rudolf Happle Ichthyoses erythrokeratodermas and related disorders Keratodermas Kro Dariers disease and HaileyHailey disease Daniel Hohl Theodora Mauro and leanPhilippe Gorog Mosaicism and linear lesions Pruritus and dysesthesia [books.google.de]
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Meningism
Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. [books.google.com]
Workup
Many melanin granules in basal cells HID syndrome, CIE Sepsis workup none Meleda type Mal de Meleda, MDM, Meleda Disease, Keratosis Palmoplantaris Transgradiens of Siemens 757.4 Inhabitants of the island of Mljet off the Dalmation Coast SLURP-1, Ly-6/ [dermatologyadvisor.com]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Treatments of PPK 50. Treatment Treatment of all types of hereditary and nonhereditary keratodermas can be difficult. Most treatment options only result in short-term improvement and are compounded frequently by side effects 51. I. [slideshare.net]
The treatment of Hereditary Focal Palmoplantar Keratoderma is based upon the cause of the condition. Symptomatic treatment of the various abnormalities associated with this form of keratoderma may be undertaken. [dovemed.com]
[…] of focal keratoderma The following treatments soften the thickened skin and make them less noticeable. [dermnetnz.org]
Prognosis
Even though the skin condition (keratoderma) is benign, the overall prognosis is based on the underlying condition and can be established only on a case-by-case basis Nevertheless, focal (localized) keratodermas have better prognosis than diffused keratodermas [dovemed.com]
Prognosis Prognosis of squamous cell cancer of oesophagus: In general is poor with 5 year survival of 75% in Stage 0 (intraepithelial cancer) to Note The tylosis oesophageal cancer gene (RHBDF2) is localized to a small region on band 17q25, a region frequently [atlasgeneticsoncology.org]
The prognosis of tylosis with oesophageal cancer is difficult to determine due to the limited number of affected individuals. [cancerindex.org]
Etiology
Abstract Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular etiology remain to be well defined. [ncbi.nlm.nih.gov]
(Etiology) Hereditary Focal Palmoplantar Keratoderma is a genetic disorder It can be caused by genetic abnormalities which are passed down (through families) in an autosomal dominant or autosomal recessive pattern Autosomal dominant: Autosomal dominant [dovemed.com]
Epidemiology
Humboldt University, D-13353 Berlin, Germany Search for other works by this author on: André Reis 6CNRS URA 1992, Généthon, 1 rue de l'Internationale, BP 60, 91002 Evry Cedex, France Search for other works by this author on: Jean Weissenbach 7ICRF Genetic Epidemiology [academic.oup.com]
Disorder Synonyms PPK Column* ICD-9 Selected Epidemiologic Features Genetic Cause Syndromic Associations Distinguishing features Age of onset (for disorder manifistation) Erythema Transgrediens Other Epidermal Features** Systemic Features*** Relevant [dermatologyadvisor.com]
Genetics and Development, Columbia University, New York, NY, USA 3 Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 4 Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA 5 Department of Epidemiology [jmg.bmj.com]
Pathophysiology
[…] epidermolytic leukoplakia Terminology Other names: Epidermolytic ichthyosis Bullous congenital ichthyosiform erythroderma Bullous ichthysosis Bullous erythroderma ichthyosiformis congenita of Brocq Disorder of cornification type 3 Vorner's syndrome Pathophysiology [pathologyoutlines.com]
Prevention
Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]
Currently, Hereditary Focal Palmoplantar Keratoderma is a genetic disorder that cannot be prevented. [dovemed.com]
[…] on the eye and dislike of bright light in the first year of life Focal keratoderma in late childhood or adolescence Most children develop mental retardation Restriction of phenylalanine and tyrosine in the diet is required to improve symptoms and may prevent [dermnetnz.org]
Theoretically, retinoids may help in prevention against some of the malignancies in these patients. Knowledge about the disease-causing gene in punctate PPK and its function might provide insights into possible skin-cancer risk. [the-medical-dictionary.com]