Presentation
In the present study, we have investigated a large family from Afghanistan in which four individuals are affected with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation. [ncbi.nlm.nih.gov]
Ectodermal dysplasia/skin fragility syndrome may present with delayed onset and cheilitis can be absent. [e-ijd.org]
A well-demarcated, thick, yellow hyperkeratosis is present over the palms and soles. An erythematous band is frequently present at the periphery of the keratosis. The surface is often uneven and verrucous. [emedicine.medscape.com]
ORPHA:217407 Synonym(s): - Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 613102 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Skin
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Sparse Hair
Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. [nectarmutation.org]
Figure 1: (a) Clinical image of face and head showing short and sparse hair over scalp, eyebrows, frontal bossing, and retracted ala nasi. (b) Closer view showing granulosis rubra nasi. [e-ijd.org]
hair on the scalp. [en.academic.ru]
Affected individuals display short, sparse hairs on the ... [kegg.jp]
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Sparse or Absent Eyelashes
Sparse or absent eyelashes MedGen UID: 350770 • Concept ID: C1862855 • Finding Skin vesicle MedGen UID: 818976 • Concept ID: C3814530 • Finding A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the [ncbi.nlm.nih.gov]
[…] or absent eyelashes Causes List for Sparse or absent eyelashes List of possible causes of Sparse or absent eyelashes or similar symptoms may include: 2 Barber Say syndrome (Sparse or absent eyelashes) Bazex-Dupre-Christol syndrome (Sparse or absent eyelashes [familydiagnosis.com]
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Sparse or Absent Eyelashes
Sparse or absent eyelashes MedGen UID: 350770 • Concept ID: C1862855 • Finding Skin vesicle MedGen UID: 818976 • Concept ID: C3814530 • Finding A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the [ncbi.nlm.nih.gov]
[…] or absent eyelashes Causes List for Sparse or absent eyelashes List of possible causes of Sparse or absent eyelashes or similar symptoms may include: 2 Barber Say syndrome (Sparse or absent eyelashes) Bazex-Dupre-Christol syndrome (Sparse or absent eyelashes [familydiagnosis.com]
Workup
Serum
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Hypertriglyceridemia
Adrenoleukodystrophy Sitosterolemia Familial combined hyperlipidemia Cerebrotendinous xanthomatosis Familial hypercholesterolaemia Hyperlipoproteinemia, type I Hyperlipoproteinemia type IIa Hyperlipoproteinemia, type III Hyperlipoproteinemia, type V Hypertriglyceridemia [csirnotes.com]
Microbiology
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Candida
The most common yeast to affect the peri-oral region is the Candida species (usually albicans). [nature.com]
Treatment
Leading experts have contributed to this book which offers a practical approach to the evaluation and management of various forms of alopecia, including their pathogenesis, the diagnostic procedures involved, medical treatments, and nutritional issues [books.google.de]
Some treatments for skin disorders may impact on dental management. The more important areas where treatments may affect dental management are discussed in this paper. [nature.com]
Early treatment with acitretin in childhood may allow patients to have normal adult dentition. [emedicine.medscape.com]
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]
There are many treatments available for dyshidrosis. [ipfs.io]
Prognosis
[10] at the age of 42 years with no serious disability, so prognosis is expected to be good in such cases like this case. [e-ijd.org]
Etiology
Heilmann S, Kiefer AK, Fricker N, et al: Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol 2013;133:1489-1496. [karger.com]
Epidemiology
Xiao FL, Yang S, Liu JB, et al: The epidemiology of childhood alopecia areata in China: a study of 226 patients. Pediatr Dermatol 2006;23:13-18. [karger.com]
"Dyshidrosis: epidemiology, clinical characteristics, and therapy.". Dermatitis : contact, atopic, occupational, drug. 17 (4): 165–81. PMID 17150166. 1 2 3 4 5 6 Colomb-Lippa, D; Klingler, AM (July 2011). "Dyshidrosis.". [ipfs.io]
The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [booktopia.com.au]
The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study populations. In: Fine J‐D, Bauer EA, McGuire J, Moshell A, eds. [rooksdermatology.com]
Pathophysiology
Epidermolysis bullosa in children: pathophysiology, anaesthesia and pain management. Paediatr Anaesth 2002 ; 12 : 388 – 97. Cross Ref link Pubmed link 175 Goldschneider KR, Lucky AW. Pain management in epidermolysis bullosa. [rooksdermatology.com]
Prevention
In cases of C1 esterase deficiency, supplementation before dental treatment may be provided to prevent the development of angio-oedema. [nature.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]