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]

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]

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]

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]

Fine needle aspiration from the pre-auricular swelling was consistent with epidermoid cyst. [ncbi.nlm.nih.gov]

Patients with these conditions should undergo frequent medical examinations, which should include chest radiography and cytologic examination of the sputum. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

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]

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]