[…] pseudoainhum formation can be ruled out due to the presence of autoamputation of digits in the present case [Figure 3]. [jdrntruhs.org]

In this report, we described a case with Vohwinkel's syndrome that presented with generalized ichthyosis, diffuse palmoplantar keratoderma, pseudoainhum, onychogryphosis, ectropion and bilateral sensorineural hearing loss and was successfully treated [ingentaconnect.com]

This cas is presented for its clinical rarity. How to cite this article: Jose S, Kamath K N, Pai G S, Pinto J. Punctate palmoplantar keratoderma. [ijdvl.com]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [doctors-hospitals-medical-cape-town-south-africa.blaauwberg.net]

A well-demarcated, thick, yellow hyperkeratosis is present over the palms and soles. An erythematous band is frequently present at the periphery of the keratosis. The surface is often uneven and verrucous. [emedicine.medscape.com]

• Sparse Hair

  Sparse hair. What it the Treatment? Oral retinoids. Topical retinoids. 4) Palmoplantar Keratoderma with sclerodactyly (hardening and thickening of the connective tissues of the fingers and toes). [firstskinfoundation.org]

  hair, enamelogenesis imperfecta Folicular hyperkeratosis, scaly plaques Birth-Early Childhood No No H, N, F N, O, V, E, H Electron microspcopy conducted on hair: focal, semi-smooth ovoid dells in the beaded areas Francois dyscephalic syndrome Neurologist [dermatologyadvisor.com]

  Desmoglein 4 mutations are mapped to the chromosome 3q with a deletion in EX5-8del, causing a localized autosomal recessive hypotrichosis. [13] Localized autosomal recessive hypothrichosis is a recently defined disorder characterized clinically with sparse [ijtrichology.com]

  Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. [mendelian.co]

• Skin Ulcer

  ulcer Pyoderma gangrenosum Other Calcinosis cutis · Sclerodactyly · Poikiloderma vasculare atrophicans · Ainhum / Pseudo-ainhum M : INT, SF, LCT anat / phys / devp noco( i / b / d / q / u / r / p / m / k / v / f )/ cong /tumr( n / e / d ), sysi / epon [dictionnaire.sensagent.leparisien.fr]

  ulcer Pyoderma gangrenosum Other Calcinosis cutis Sclerodactyly Poikiloderma vasculare atrophicans Ainhum / Pseudo-ainhum M : INT, SF, LCT anat / phys / devp noco ( i / b / d / q / u / r / p / m / k / v / f )/ cong /tumr ( n / e / d ), sysi / epon proc [worldebooklibrary.org]

• Spastic Paralysis

  Pathways for Keratoderma Palmoplantar Spastic Paralysis GO Terms for Keratoderma Palmoplantar Spastic Paralysis Sources for Keratoderma Palmoplantar Spastic Paralysis [malacards.org]

  Prognosis - Keratoderma palmoplantar spastic paralysis Not supplied. Treatment - Keratoderma palmoplantar spastic paralysis Not supplied. [checkorphan.org]

  paralysis syndrome, Powell-Venencie-Gordon syndrome See more Don’t fight Keratoderma palmoplantar spastic paralysis alone. [rareguru.com]

  TY - JOUR T1 - Keratoderma and spastic paralysis. [unboundmedicine.com]

  You are donating to research for a rare disease: ' Palmoplantar keratoderma-spastic paralysis syndrome '. [react-community.org]

[…] sporadically from unaffected parent carriers, and autosomal dominant PPK can also occur sporadically due to a new mutation in an affected person (a de novo mutation). [4] Histopathology of a biopsy from affected skin should be part of the diagnostic workup [rarediseases.info.nih.gov]

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]

Last updated: 12/30/2016 Treatment of both hereditary and acquired palmoplantar keratodermas (PPK) is difficult. [1] The goal of treatment is to soften the thickened skin and make it less noticeable. [2] In many cases, treatment only results in short-term [rarediseases.info.nih.gov]

Standard Therapies Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment - Keratoderma palmoplantar spastic paralysis Not supplied. Resources - Keratoderma palmoplantar spastic paralysis Keratoderma palmoplantar spastic paralysis: Another name for Powell-Venencie-Gordon syndrome [checkorphan.org]

Early treatment with acitretin in childhood may allow patients to have normal adult dentition. [emedicine.medscape.com]

Prognosis - Keratoderma palmoplantar spastic paralysis Not supplied. Treatment - Keratoderma palmoplantar spastic paralysis Not supplied. [checkorphan.org]

PMID: 18389286Free PMC Article Prognosis Takigawa T, Tanaka M, Nakahara S, Sugimoto Y, Ozaki T Eur Spine J 2008 Sep;17 Suppl 2(Suppl 2):S331-7. Epub 2008 Apr 4 doi: 10.1007/s00586-008-0663-4. PMID: 18389286Free PMC Article [ncbi.nlm.nih.gov]

[…] palmoplantar keratodermas (PPKs) are a group of heterogeneous skin disorders classified based upon their mode of inheritance, age of onset, morphology and distribution of palmoplantar thickening, presence of skin lesions elsewhere, histopathology, and prognosis [jdrntruhs.org]

[from SNOMEDCT_US] Etiology Ann Thorac Surg 2004 Nov;78(5):1801-7. doi: 10.1016/j.athoracsur.2004.03.012. PMID: 15511477 Diagnosis Takigawa T, Tanaka M, Nakahara S, Sugimoto Y, Ozaki T Eur Spine J 2008 Sep;17 Suppl 2(Suppl 2):S331-7. [ncbi.nlm.nih.gov]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [doctors-hospitals-medical-cape-town-south-africa.blaauwberg.net]

[…] palmoplantar keratoderma - dilated cardiomyopathy - Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. The Journal of Investigative Dermatology, 111, 1207–1209. PubMed CrossRef Google Scholar Da Rosa Santos, O. L. R., Amorim, J. [link.springer.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]

Its pathophysiology is still unclear. However the combination of impairment of genetic and environmental factors is most likely. The transmission is often autosomal dominant, rarely autosomal recessive. [5, 6, 7]. [pubs.sciepub.com]

Pathophysiology Mutations in two different genes KRT1 and MPZ on 12q.13 and 1q23 appear to be responsible for this particular association. [accessanesthesiology.mhmedical.com]

Prevention - Keratoderma palmoplantar spastic paralysis Not supplied. Diagnosis - Keratoderma palmoplantar spastic paralysis signs and symptoms of Powell-Venencie-Gordon syndrome may vary on an individual basis for each patient. [checkorphan.org]

The treatment of Vohwinkel syndrome aims to alleviate the keratoderma and prevent digital self-amputation. The surgical release of the constrictive rings can be used to prevent self-amputation, the most disabling complication of the disease 3. [rbcp.org.br]

Maintenance therapy was required to prevent relapse.[5] This case is presented for its clinical rarity. [ijdvl.com]

This is extremely important because early diagnosis and prompt treatment can potentially prevent aggressive periodontitis, tooth loss, and improve overall quality of life of people with Papillon-Lefèvre syndrome. [rarediseases.org]