A 36-year-old man presented with longstanding pain and hyperkeratotic palms. He had presented with corns on his palms in adolescence, which developed easily after sports. [medicaljournals.se]

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]

Therefore, at present, we could not find clinical similarities between our case and other cases of MDM or MDM-like PPK unlinked to SLURP1. [jamanetwork.com]

[…] palmoplantar keratoderma of Siemens Prevalence: 1-9 / 100 000 Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy, Childhood ICD-10: Q82.8 OMIM: 248300 UMLS: C0025221 MeSH: - GARD: 92 MedDRA: - The documents contained in this web site are presented [orpha.net]

Perelman Department of Dermatology, New York University Abstract A 13-year-old boy and a 7-year-old boy, who are brothers, presented with a life-long history of erythema, hyperkeratosis, and desquamation of the hands and feet. [escholarship.org]

• Nail Abnormality

  Nail abnormalities. Decreased sweating. [firstskinfoundation.org]

  Brachydactyly with short cone-shaped fingers and nail abnormalities, such as koilonychia or pachyonychia, are frequently associated features. [jamanetwork.com]

  Some commonly associated findings include nail abnormalities, keratotic plaques over the joints, perioral erythema, brachydactyly, and pseudoainhum (Bergman et al. 1993). No other organ is involved in the pathologic process. [nature.com]

  Alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatosis, and nail abnormalities are associated findings. Cases of epithelioma cuniculatum have been reported. [emedicine.medscape.com]

  It usually exhibits perioral erythema, occasional brachydactyly, nail abnormities, and lichenoid plaques. [journals.lww.com]

• Asymptomatic

  Punctate PPK Punctate PPK or Buschke–Fischer syndrome, an autosomal dominant disorder, presents between 12 and 30 years of age as multiple asymptomatic punctate hyperkeratotic papules involving whole or part of palms and soles. [journals.lww.com]

• Cheilitis

  An angular cheilitis was noted in 7 patients at the corner of the mouth (AA1, AB2, AB3, AC2, AC3, B1, C2). [jamanetwork.com]

  […] uninvolved skin, and palmoplantar keratoderma Tags Green Green List (high evidence) CAST 3 reviews 1 green BIALLELIC, autosomal or pseudoautosomal Sources Expert Review Green Literature Phenotypes Peeling skin with leukonychia, acral punctate keratoses, cheilitis [panelapp.genomicsengland.co.uk]

  An angular cheilitis was found in patient V-8 only. Except for these symptoms, no other physical finding was observed. [nature.com]

• Photophobia

  Sensorineural deafness, polydactyly, syndactyly, clubbing of fingers, mental retardation, dwarfism, photophobia, and strabismus are associated features. Clouston syndrome is mapped to 13q11. [emedicine.medscape.com]

• Strabismus

  Sensorineural deafness, polydactyly, syndactyly, clubbing of fingers, mental retardation, dwarfism, photophobia, and strabismus are associated features. Clouston syndrome is mapped to 13q11. [emedicine.medscape.com]

• Pachyonychia

  […] testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Pachyonychia Congenita, Type 2 Pachyonychia congenita, Jackson-Lawler type, 167210 Steatocystoma multiplex, 184500 Tags Green Green List (high evidence) KRT6A 2 [panelapp.genomicsengland.co.uk]

  […] plamoplantaris type Nagashima (mutation of SERPINB7 gene) Loricrin keratoderm (mutation in the loricrin gene) Keratosis palmoplantaris aquagene with mutation in CFTR Clericuzio-type poikiloderma with neutropenia, recurrent sinopulmonary infections, pachyonychia [altmeyers.org]

  […] hereditary palmoplantar keratodermas Palmoplantar keratoderma striata/areata type (autosomal dominant) Hereditary painful callosities (autosomal dominant) Howel-Evans syndrome or tylosis (autosomal dominant) Richner-Hanhart syndrome (autosomal recessive) Pachyonychia [dermnetnz.org]

  Pachyonychia congenita Pachyonychia congenita (PC), an autosomal dominant disorder, is due to mutations in one of the four keratin genes, KRT6A, KRT6B, KRT16, or KRT17. [journals.lww.com]

  Brachydactyly with short cone-shaped fingers and nail abnormalities, such as koilonychia or pachyonychia, are frequently associated features. [jamanetwork.com]

• Alopecia

  Alopecia, deafness, nail dystrophy, and dental loss may be associated. [emedicine.medscape.com]

  Alopecia may occur in few cases; however nail, teeth, and mucosae remain normal. [journals.lww.com]

  […] green MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 Palmoplantar keratoderma with congenital alopecia [panelapp.genomicsengland.co.uk]

• Follicular Hyperkeratosis

  Other cutaneous manifestations include acanthosis nigricans, xerosis, follicular hyperkeratosis over the zygoma, and hyperhidrosis. Histologic findings include hyperkeratosis, hypergranulosis, and acanthosis. [emedicine.medscape.com]

• Confusion

  Classification of hereditary PPK is frequently confusing. [firstskinfoundation.org]

  Sometimes MdM may be confused with these 2 forms of erythrokeratoderma in which PPK may be present. [jamanetwork.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The following treatments soften the thickened skin and makes it less noticeable. [dermnetnz.org]

A better understanding of the clinical characteristics and pathogenic gene characterization of NPPK will enhance the diagnosis of NPPK, identify related diseases, and inform on the precise therapy and prognosis. [hindawi.com]

Pathogenesis The etiology of NPPK has been established. However, its pathogenesis has not been clearly elucidated. [hindawi.com]

Another possible differential diagnosis is symmetrical lividities of the soles, a rare dermatosis of unknown etiology, characterized by hyperhidrosis and symmetrical, bluish-red plaques on the soles of the feet, but its predilection is not limited to [jamanetwork.com]

Rudan I, Campbell H, Rudan P: Genetic epidemiological studies of Eastern Adriatic Island isolates, Croatia: Objectives and strategies. Coll Antropol 1999;23:531–546. [karger.com]

Despite reports on mild T cell infiltration in the affected skin area, the pathophysiology of the skin redness and hyperkeratosis has not been characterized [24]. [hindawi.com]

After the failure of acitretin, which had not prevented retractile and mutilating progression of the palmoplantar keratoderma, he had undergone surgery with graft excision of both palms. [pubmed.ncbi.nlm.nih.gov]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Elective extraction of involved teeth may prevent excess bone resorption. Appropriate antibiotic therapy may be required for periodontitis and recurrent cutaneous and systemic infections. [emedicine.medscape.com]

At the same time, local low-dose application of gentamicin exhibited a significant effect and prevented the potential ototoxicity and nephrotoxicity of aminoglycoside antibiotics [13]. [hindawi.com]