Nail dystrophy affects both toes and fingers; it can be present at birth or developed during early childhood. Palmoplantar keratoderma becomes apparent in later childhood. [accessanesthesiology.mhmedical.com]

[…] hyperkeratosis-spastic paralysis syndrome Powell-Venencie-Gordon syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: - OMIM: 148360 UMLS: C1835671 C2931828 MeSH: C536153 GARD: 3095 MedDRA: - The documents contained in this web site are presented [orpha.net]

This condition can present a diagnostic challenge for clinicians as the clinical presentation can be relatively subtle. [statpearls.com]

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

• Pain

  They have gradually increased in number spontaneously and have been painful while walking. There was a family history of similar lesions, hypertension, diabetes mellitus and carcinoma. [ijdvl.com]

  Associated sensitive disturbances are hypoesthesia with stocking and glove distribution, loss of the sense of vibration and deep tendon reflexes, paresthesias, and pain. Muscle histological lesions can be present. [accessanesthesiology.mhmedical.com]

  They are usually asymptomatic but may be painful. Many authors suggest this disease is related to manual labor. [mdedge.com]

  Emanual MAVERAKIS1,2 1Department of Dermatology, School of Medicine, University of California, Davis, and 2Veterans Affairs Northern California Health Care System, Sacramento, USA Pyoderma gangrenosum (PG) is an inflammatory disease characterized by painful [medicaljournals.se]

  Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy. [malacards.org]

• Hypertension

  There was a family history of similar lesions, hypertension, diabetes mellitus and carcinoma. [ijdvl.com]

  Polysyndactyly type 4 Polysyndactyly type Haas Poncet-Spiegler's cylindroma Pontoneocerebellar Hypoplasia Popliteal pterygium syndrome lethal type Porencephaly cerebellar hypoplasia malformations Porokeratosis plantaris palmaris et disseminata Portal hypertension [en.wikipedia.org]

• Myopathy

  Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

  VACTERL association VACTERL association with hydrocephaly X-linked VACTERL hydrocephaly Vacuolar myopathy Vagina absence of Vaginal cancer Vagneur Triolle Ripert syndrome Valinemia Van Allen Myhre syndrome Van Benthem-Driessen-Hanveld syndrome Van Bogaert-Hozay [personalizedcause.com]

• Muscle Spasticity

  Orphanet 58 Palmoplantar keratoderma-spastic paralysis syndrome: A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly [malacards.org]

• Hyperkeratosis

  Fitzsimmons-McLachlan-Gilbert syndrome Focal Palmoplantar and Gingival Keratosis Hyperkeratosis-Hyperpigmentation Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Inflammatory Poikiloderma with Hair Abnormalities and Acral [rgd.mcw.edu]

  Palmar hyperkeratosis Figure 5. Family tree showing affected members in different generations Figure 6. Histological sections of the skin biopsy of the lesions of palmar and plantar hyperkeratosis Figure 7. [pubs.sciepub.com]

  Focal acral hyperkeratosis exhibits only hyperkeratosis, whereas acrokeratoelastoidosis has the additional finding of elastorrhexis. [mdedge.com]

  Acanthosis nigricans Confluent and reticulated papillomatosis Callus Ichthyosis acquisita Arsenical keratosis Chronic scar keratosis Hyperkeratosis lenticularis perstans Hydrocarbon keratosis Hyperkeratosis of the nipple and areola Inverted follicular [sapientiait.com]

  Histopathological examination of biopsy specimen showed hyperkeratosis, hypergranulosis, acanthosis, elongation of rete ridges and sparse dermal mononuclear cell infiltrate. [ijdvl.com]

• Keratosis

  Inverted follicular keratosis Lichenoid keratosis Multiple minute digitate hyperkeratosis PUVA keratosis Reactional keratosis Stucco keratosis Thermal keratosis Viral keratosis Warty dyskeratoma Waxy keratosis of childhood other hypertrophy: Keloid Hypertrophic [sapientiait.com]

  […] sole of foot 37136002 attributes - group3 Associated morphology Hyperkeratosis 26996000 Finding site Skin structure of palmar area of hand 70887009 parents Autosomal dominant hereditary disorder 11164009 Inherited disorder of keratinization 254214009 Keratosis [findacode.com]

  Keratoses Judge Misch Wright Syndrome Keratoderma Palmoplantaris Transgrediens Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive Keratosis Palmaris et Plantaris with Clinodactyly keratosis palmoplantaris striata + mal de Meleda mutilating [rgd.mcw.edu]

  Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. Quart. J. [link.springer.com]

  Cutis Current and Past Issues For Authors CME COVID-19 Updates Diseases & Conditions Acne Actinic Keratosis Aesthetic Dermatology Atopic Dermatitis Autoimmune Diseases Contact Dermatitis Hair & Nails Melanoma Nonmelanoma Skin Cancer Pigmentation Disorders [mdedge.com]

• Hyperhidrosis

  Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present. [rgd.mcw.edu]

  In contradistinction to diffuse keratodermas there is no associated hyperhidrosis.[1] Associated features are rare and can be spastic paralysis,[2] ankylosing spondylitis, anodontia, deuteranopia, deuteranomalia and freckle like hyperpigmentation on the [ijdvl.com]

  Local hyperhidrosis may be present in acrokeratoelastoidosis but has not been reported for focal acral hyperkeratosis. These 2 entities are mainly distinguished histologically. [mdedge.com]

• Freckles

  In contradistinction to diffuse keratodermas there is no associated hyperhidrosis.[1] Associated features are rare and can be spastic paralysis,[2] ankylosing spondylitis, anodontia, deuteranopia, deuteranomalia and freckle like hyperpigmentation on the [ijdvl.com]

  […] hypoplasia familial primary Pulmonary supravalvular stenosis Pulmonary surfactant protein B, deficiency of Pulmonary valves agenesis Pulmonary veins stenosis Pulmonary venous return anomaly Pulmonaryatresia intact ventricular septum Punctate acrokeratoderma freckle [en.wikipedia.org]

• Palmoplantar Keratosis

  Hereditary Palmoplantar Keratosis, Current Genetics in Dermatology, Dr. Naoki Oiso (Ed.), ISBN: 978-953-51-0971-6, In Tech. [pubs.sciepub.com]

• Spastic Paralysis

  SNOMED CT code SNOMED code 785725008 name Palmoplantar keratoderma, spastic paralysis syndrome status active date introduced 2019-07-31 fully specified name(s) Palmoplantar keratoderma, spastic paralysis syndrome (disorder) synonyms Palmoplantar keratoderma [findacode.com]

  […] and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. [orpha.net]

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

  Preferred Label : powell venencie gordon syndrome; MeSH synonym : punctate keratoderma and spastic paralysis; keratoderma and spastic paralysis; [cismef.org]

In addition to obtaining a skin biopsy and cultures, workup may sometimes include colonoscopy, and extensive blood and urine screening. Pathophysiology PG is now considered to be an aberrant and possibly autoreactive immune response. [medicaljournals.se]

However, devising an appropriate treatment strategy is essential. [medicaljournals.se]

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]

No exploration or treatment was carried out. The research of similar cases in the family had revealed the presence of the KPP 1 in many other family members over four generations. [pubs.sciepub.com]

Differential diagnosis considered include corns, calluses, secondary syphilis, AIDS associated keratoderma, Reitre′s syndrome, Bazex syndrome and arsenical keratoses.[4] Prior to the advent of retinoids there was no satisfactory treatment for punctate [ijdvl.com]

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]

[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]

There are several lines of evidence supporting an immunologic etiology of PG. [medicaljournals.se]

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]

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]

Thus, there is strong correlative evidence in support of PG having an underlying immunologic mechanism; however, its exact pathophysiology is not well understood. [medicaljournals.se]

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

[…] nuclear ribonucleoprotein (snRNP) particles.[9] Scl-70 antibodies interfere with DNA replication by binding to Topoisomerase I[10], and anti-centromere antibodies affect cell division by binding to centromeres during interphase. [11] Antibodies to Jo-1 prevent [statpearls.com]

The chronic nature of the disease usually requires long-term maintenance therapy to prevent relapses from occurring. [medicaljournals.se]