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Diffuse Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma Type Norrbotten


Presentation

  • The present patient is a 47-year-old-man with PPK who suffered from metastatic non-small-cell carcinoma of the lung.[ncbi.nlm.nih.gov]
  • Subsequently, a thick yellowish hyperkeratosis appeared and expanded to attain the present status.[indianpediatrics.net]
  • Lower panel : A similar phenotypic appearance were present in all family members.[bmcdermatol.biomedcentral.com]
Abdominal Lymphadenopathy
  • In 2001 the patient revealed inguinal and abdominal lymphadenopathy first diagnosed as extramedullary plasmacytoma and then as multiple myeloma on the basis of bone marrow infiltration and monoclonal gammopathy.[ncbi.nlm.nih.gov]
Pathologist
  • The pathologist examines the biopsy under a microscope.[dovemed.com]
  • OC was the pathologist on the case and performed the histopathological examination of skin biopsies. JMH and DCB were responsible for genetic testing and genetic counselling. ABK wrote the manuscript.[bmcdermatol.biomedcentral.com]
El Salvador
  • El Salvador : La Libertad, San Salvador, etc. Equatorial Guinea : Malabo, etc. Eritrea : Asmara, etc. Estonia : Haapsalu, Kuressaare, Narva, Pärnu, Saaremaa, Tallinn, Tartu, etc. Ethiopia : Addis Ababa, Bahir Dar, Gondar, etc.[maria-online.com]
Lymphadenopathy
  • In 2001 the patient revealed inguinal and abdominal lymphadenopathy first diagnosed as extramedullary plasmacytoma and then as multiple myeloma on the basis of bone marrow infiltration and monoclonal gammopathy.[ncbi.nlm.nih.gov]
Recurrent Bacterial Infection
  • Papillon-Lefevre syndrome is an autosomal recessive keratoderma associated with inflammation of the gums and loss of teeth, sparse hair and recurrent bacterial infections of the skin and internal organs.[dermnetnz.org]
Aspiration
  • Fine needle aspiration from the pre-auricular swelling was consistent with epidermoid cyst.[ncbi.nlm.nih.gov]
Sputum
  • Patients with these conditions should undergo frequent medical examinations, which should include chest radiography and cytologic examination of the sputum.[ncbi.nlm.nih.gov]
Heart Failure
  • Cardiac disease, manifested by arrhythmias, heart failure, or sudden death, becomes evident during and after late puberty.[emedicine.medscape.com]
Tachycardia
  • Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery. In: Kulbertus H, ed. Reentrant Arrhythmias. Lancaster: MTP Publishing; 1977:334–350.[circ.ahajournals.org]
Palpitations
  • The cardiac abnormality (Fig 2 ) was not clinically manifest until the patient was 15 years of age, and onset was usually with palpitation or syncope.[circ.ahajournals.org]
Mitral Valve Prolapse
  • Sudden death in mitral valve prolapse with Holter monitoring-documented ventricular fibrillation: evidence of coexisting arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 1995 ; 49 :274–278.[circ.ahajournals.org]
Myopathy
  • Alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatosis, and nail abnormalities are associated findings. Cases of epithelioma cuniculatum have been reported.[emedicine.medscape.com]
Strabismus
  • There are other less common abnormalities reported in Clouston syndrome, which include conjunctivitis, strabismus, congenital cataract, oral leucoplakia, diffuse eccrine poromatosis, sensorineural hearing loss, thickened skull bones, and tufting of the[ncbi.nlm.nih.gov]
  • 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]
Sparse to No Eyebrows
  • The eyelashes are short and sparse, and the eyebrows as well as axillary and pubic hair are also sparse or absent (1), as in our case. During infancy, the nails are typically milky white, gradually thickening throughout childhood.[ncbi.nlm.nih.gov]
Dry, Scaly Skin
  • Loricrin keratoderma is a variant of Vohwinkel syndrome which also results in dry, scaly skin over the rest of the body ( ichthyosis ).[dermnetnz.org]
Short Nails
  • Hair , nail and teeth abnormalities Hidrotic ectodermal dysplasia is an autosomal dominant keratoderma associated with very sparse or absent hair on the head, face and body and thickened, short nails which are easily lost.[dermnetnz.org]
Scaly Rash
  • Unna-Thost palmoplantar keratoderma Transgradient diffuse palmoplantar keratodermas Olmsted syndrome Most likely to have autosomal recessive inheritance Associated with scaly rash around the mouth and nose Lines of skin thickening occur the inner aspects[dermnetnz.org]

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]
Right Bundle Branch Block
  • Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome: a multicenter report. J Am Coll Cardiol. 1992 ; 20 :1391–1396. Crossref Medline Google Scholar 67 Uhl H.[circ.ahajournals.org]
T Wave Inversion
  • Accompanying ECG shows abnormal T-wave inversion in leads V 2 through V 4, consistent with abnormal repolarization affecting RV. Epsilon waves are also observed. Figure 3. Pedigrees of families affected by Naxos disease.[circ.ahajournals.org]

Treatment

  • Early treatment with acitretin in childhood may allow patients to have normal adult dentition.[emedicine.medscape.com]
  • Thirteen years later SLE was diagnosed and until now it is also accompanied by skin lesions corresponding to non-familial, diffuse palmoplantar keratoderma which is resistant to treatment.[ncbi.nlm.nih.gov]
  • The treatment of Diffuse Hereditary 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]
  • Etretinate and acitretin are effective, but as treatment must be continued lifelong, systemic retinoids should be used only in the most severe cases as side effects are problematic.[skincareguide.ca]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • When PPK is associated with malignancy the prognosis is poor. Patients with these conditions should undergo frequent medical examinations, which should include chest radiography and cytologic examination of the sputum.[ncbi.nlm.nih.gov]
  • It may be the only change or a part of a more widespread dermatosis or even a manifestation of an internal malady. [1] The hereditary disorders present distinctive differences in their clinical features, mode of inheritance, associated defects and prognosis[ijdvl.com]
  • The prognosis of tylosis with oesophageal cancer is difficult to determine due to the limited number of affected individuals.[cancerindex.org]

Etiology

  • The exact etiology and pathogenesis of this syndrome are still not fully understood. Several factors were attributed to the etiology of PLS-periodontitis including microbiologic, immunologic, and genetic.[omicsonline.org]
  • This would benefit identification of an etiological gene by localizing it to a smaller interval.[circ.ahajournals.org]

Epidemiology

  • .: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 111:1207–1209, 1998. PubMed CrossRef Google Scholar 4.[link.springer.com]
  • Epidemiologic surveys in young individuals have been performed in many parts of the world and among individuals with a widely varied background.[omicsonline.org]
  • Epidemiological data are limited, but there is evidence to support geographical clustering, for example in northern Italy, 8 and this may suggest areas of high prevalence.[circ.ahajournals.org]
  • 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]
Sex distribution
Age distribution

Prevention

  • Currently, Diffuse Hereditary Palmoplantar Keratoderma is a genetic disorder that cannot be prevented.[dovemed.com]
  • Summary of "Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis)." No Summary Available Affiliation Journal Details This article was published in the following journal.[bioportfolio.com]
  • Emollients Use plenty of grease or other thick emollient to soften the dry skin to prevent fissures. Soak in warm water with emulsifying ointment for 10 minutes.[novatretin.co.nz]
  • Use of properly fitted footwear and socks can prevent fissuring of the sole, by protecting them from environmental insults and providing occlusive effects.[icliniq.com]
  • 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]

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