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The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal+3 more
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Beneficial screening of Fabry disease in patients with hypohidrosis [PDF]
Megumi Nagai‐Sangawa+8 more
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Presentation of hypohidrotic ectodermal dysplasia in two siblings
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally+3 more
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Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological)
Ishmeet Kaur+3 more
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Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf+3 more
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A case of miliaria profunda after excessive sweating during a summer vacation
Capsule Summary A 34‐year‐old healthy man presented with a 6‐week history of anhidrosis and heat intolerance after a trip to Mallorca. He experienced nonpruritic, transient papular lesions during overheating, accompanied by dizziness and palpitations.
Ariana Palacio+5 more
wiley +1 more source
Prosthetic rehabilitation for a patient with hypohidrotic ectodermal dysplasia: a clinical case
Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. The case of an 8-year-old girl with HED presenting oligodontia and marked resorption of maxillary and ...
Guna Shekhar+3 more
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Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi+2 more
doaj
Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study
This nationwide population-based study investigated the risk of death, infections, and hyperthermia in Danish patients with ectodermal dysplasia (ED). A validated cohort of ED patients (n = 396) and matched population comparators (n = 3960) was compared ...
Laura Krogh Herlin+3 more
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Ectodermal dysplasia: Report of two cases in a family and literature review
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi+3 more
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