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]

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

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

• Respiratory Insufficiency

  A rare keratodermal syndrome where nail dystrophies are associated with axonal neuropathy and sometimes respiratory insufficiency. [accessanesthesiology.mhmedical.com]

• Macroglossia

  The examination showed notableskin and mucosal pallor, macroglossia and diffuse cutaneous infiltration. He had received insulin supplementation, hydration and adequate antibiotics. [pubs.sciepub.com]

• Acrocyanosis

  Derm. clin. sper. 36, 47–53 (1982) Google Scholar Nielsen, P G: Diffuse palmoplantar keratoderma associated with acrocyanosis: a family study. Acta derm.-vener. [link.springer.com]

• Plantar Hyperkeratosis

  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]

• Short Hands

  Genet. 18, 67–77 (1984) CrossRef CAS Google Scholar Thatcher: Keratosis palmaris et plantaris with broad short hands. Edinb. med. J. 8, 342–344 (1912) Google Scholar Download references [link.springer.com]

• Narrow Nose

  A particular face is observed (narrow nose, prematurely aged face). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. [accessanesthesiology.mhmedical.com]

• Aged Face

  A particular face is observed (narrow nose, prematurely aged face). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. [accessanesthesiology.mhmedical.com]

• Paresthesia

  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]

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]

• Nephrolithiasis

  He hasalso moderate chronic renal failure (creatinine 50 clearance ml/min) complicating bilateral nephrolithiasis. Table 1. [pubs.sciepub.com]

• Hyponatremia

  After several days of treatment, his arterial pressure had remained low under 100 mmHg/ 60 mmHg, with hyponatremia and normal kaliemia: hypothyroidism and adrenocortical insufficiency were suspected. Later, his status had improved dramatically. [pubs.sciepub.com]

• Hepatocellular Carcinoma

  It was associated with colorectal cancer, hepatocellular carcinoma and melanoma in different family members (Figure 5). [pubs.sciepub.com]

• HLA-B27

  Punctate palmoplantar keratoderma associated with morbusbechterew and HLA B27. Acta Derma Venerol (Stockh) 1988; 68: 346-350, In article       [9] Asadi AK. Type I hereditary punctate keratoderma. Dermatol Online J. 2003; 9 (4):38. [pubs.sciepub.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]

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]

Arthritis and rheumatism. 2012 Aug [PubMed PMID: 22553077] [21] Sobolewski P,Maślińska M,Wieczorek M,Łagun Z,Malewska A,Roszkiewicz M,Nitskovich R,Szymańska E,Walecka I, Systemic sclerosis - multidisciplinary disease: clinical features and treatment. [statpearls.com]

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

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

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]

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]