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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Differential diagnosis: There are several other genetic disorders that fall under the category of ectodermal dysplasias, including hypohidrotic ectodermal dysplasia, hidrotic ectodermal dysplasia, Rubinstein-Taybi syndrome, and the p63-associated dysplasias. While there may be some overlap in the clinical findings, combination of a physical examination and genetic testing can help confirm the correct diagnosis. There are also many diseases that can be associated with palmoplantar hyperkeratosis.
The skin
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Hypohidrotic ectodermal dysplasia (HED) is the most common of the ectodermal dysplasias. It is usually sex linked, with full expression in males and variable expression in female carriers, who may show dental anomalies as well as a reduced sweat pore count and a patchy distribution of the sweating pattern on starch-iodine testing. There can be a substantial morbidity and mortality in early childhood in affected males. Morbidity in infancy often includes over-heating, recurrent respiratory tract infections, failure to thrive and incoordinate oesophageal motility, but then health improves around 2 years of age. Those affected readily learn to manage their body temperature but also have to manage their appearance and the stigmatisation it may attract.
Congenital alacrima
Published in Orbit, 2022
Zhenyang Zhao, Richard C. Allen
Ectodermal dysplasia is a constellation of genetic disorders affecting tissues from ectodermal origin. According to the National Foundation for Ectodermal Dysplasias, more than 180 distinct types of ectodermal dysplasia have been reported in the literature. Among these, X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type, followed by Ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC) and Ankyloblepharon–ectodermal dysplasia–clefting syndrome (AEC). The first report of alacrima in the English literature described two male cousins with HED presenting with absence of tears, hypotrichosis, hypohidria and hypodontia. Although dry eye symptoms exist in over 90% of the patients with HED,26 true alacrima is only confirmed in 8.3% of the patients from Keklikci’s series by Schirmer’s test.27 Prominent dry eye symptoms are attributed to partial or complete meibomian gland agenesis, which is observed in all patients.26 Pannus, and corneal opacities are found later in life under a joint mechanism of tear film instability and limbal stem cell defects.27 Other ocular features include periorbital hyperpigmentation, eyebrow anomalies and lacrimal duct anomalies.
AAMR syndrome in a 22-month-old and literature review
Published in Ophthalmic Genetics, 2022
Mark A. Oet, Venkatesh Brahma, James McGrath, Jennifer A. Galvin
Alacrima can be present as an isolated phenomenon or with other systemic findings. Conditions involving alacrima include Riley-Day syndrome (familial dysautonomia), anhidrotic ectodermal dysplasia, and Triple-A syndrome (formerly known as Allgrove syndrome) (1,2). Riley-Day syndrome is a disorder of the autonomic nervous system resulting in pain insensitivity, inability to produce tears, poor growth, labile blood pressure, as well as problems with speech and movement (1,2). Anhidrotic or hypohidrotic ectodermal dysplasia is caused by dysplasia of ectodermal tissue in the body resulting in abnormal development of the skin, hair, nails, teeth, sweat, and lacrimal glands (1,2).
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies
Published in Ocular Immunology and Inflammation, 2020
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez, Carina Paola Rinaudo, Pablo Chiaradía
Ectodermal dysplasia (ED) is a group of severe inherited conditions with absence or dysgenesis of two or more ectodermal structures. Inheritance patterns may be autosomal-dominant, autosomal-recessive or X-linked. Hypohidrotic Ectodermal Dysplasia (HED) is an X-linked condition and the most common form of ED.1 In this variant, either there are no sweat glands or they are significantly decreased.2 HED can be diagnosed by three cardinal features: hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).3