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Growth and development
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
1.43. Delayed eruption of teeth can occur inrickets.severe neonatal hyperbilirubinaemia.hypothyroidism.cleidocranial dysostosis.ectodermal dysplasia.
De Fabrica Humani Corporis—Fascia as the Fabric of the Body
Published in David Lesondak, Angeli Maun Akey, Fascia, Function, and Medical Applications, 2020
In embryology the question “Where does it comes from?” usually leads to the so-called germ layers.18 In human development these three germ layers appear in approximately the third week after conception.19 In common embryology germ layers are regarded as morphological organ-forming units from which the various tissues and organs develop, resulting in a functioning organism. In most textbooks the three primary germ layers are referred to as ectoderm, mesoderm, and endoderm (sometimes mentioned as ectoblast (or epiblast), mesoblast, and endoblast (or hypoblast).
Multiple carboxylase deficiency/biotinidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The cutaneous lesions tend to be patchy [11–15] (Figures 7.3–7.11), in contrast to the total body eruption seen in holocarboxylase synthetase deficiency (Chapter 5). However, there may be severe generalized involvement of the skin with redness and desquamation [13]. Skin lesions are associated with periorificial cracking, and there may be blepharoconjunctivitis or keratoconjunctivitis of sufficient severity to lead to admission to hospital. Perioral stomatitis is regularly seen, and there may be glossitis. There may also be perineal dermatitis (Figure 7.4) [13]. One of our patients had carried a clinical diagnosis of acrodermatitis enteropathica for many years. Anhidrotic ectodermal dysplasia has also been considered in the differential diagnosis of this disorder. The eruption may appear seborrheic. Mucocutaneous candidiasis is a frequent concomitant. The alopecia may be progressive to alopecia totalis (Figure 7.10) [11], but it is usually less than total (Figures 7.7 and 7.11), and may be simply a sparseness of cranial hair, eyebrows, or lashes.
Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2%
Published in Journal of Dermatological Treatment, 2023
Wafaa M. Ramadan, Arwa M. Hassan, Esraa E. El-Hawary, Nesrin S. Gomaa
Hypotrichosis simplex is a rare hereditary hair disorder which is manifested by either isolated scalp hair affection or involves or body hair. The condition usually starts in the first decade of life. Diagnosis and treatment of HHS is challenging and in the absence of genetic testing, diagnosis of HHS is established by exclusion. Short hair occurs with different etiological background; it can be due to shaft breakage, falling at certain length or true inability to grow normal healthy hair. Good examination of other ectodermal tissues is mandatory to exclude other syndromes e.g. ectodermal dysplasia. Other metabolic disorders may give the same picture of fine hair. Some acquired disorders should be ruled out e.g. loose anagen syndrome which differs in the easily pulled hairs as well as hair bulb abnormalities (3).
Cronkhite-Canada syndrome: a retrospective analysis of four cases at a single medical center
Published in Scandinavian Journal of Gastroenterology, 2022
Xing Yu, Chengdang Wang, Mi Wang, Yinchen Wu, Linlin Zhang, Qinyu Yang, Long Chen
Digestive symptoms were the initial clinical symptoms in all the four patients. The main digestive symptoms were diarrhea (4/4), abdominal pain (2/4), abdominal distension (1/4), hypogeusia (2/4), and bloody stool (1/4). The diarrhea usually occurred 3–5 times per day and occasionally up to 8–10 times with mushy or watery stools. All the patients had at least one symptom of ectodermal dysplasia, including alopecia (3/4) (Figure 1(A)), nail dystrophy (4/4) (Figure 1(B)) and skin hyperpigmentation (3/4), and two patients had all ectodermal symptoms. Scalp hair loss was the most common type of hair loss, which also occurred in the eyebrows, pubic hair, and armpits. Nail dystrophy was characterized by thinning and shedding of nails. Skin hyperpigmentation was mainly observed on the face and limbs. Weight loss (4/4) and edema (2/4) also occurred.
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.