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1982 1
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2011 1
2013 2
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2016 3
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Page 1
Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA. Kodali N, et al. Ital J Dermatol Venerol. 2023 Jun;158(3):217-223. doi: 10.23736/S2784-8671.23.07594-1. Epub 2023 May 11. Ital J Dermatol Venerol. 2023. PMID: 37166753 Free article. Review.
Other variants and rare subtypes include keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Inherited mutations of the FLG gene and ABCA12 gene have been implicated etiologically. KP may be associated …
Other variants and rare subtypes include keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of …
Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.
Wang JF, Orlow SJ. Wang JF, et al. Am J Clin Dermatol. 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. Am J Clin Dermatol. 2018. PMID: 30043128 Review.
Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. ...
Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromel …
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. ...Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman …
Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than t …
Corneal dystrophies.
Klintworth GK. Klintworth GK. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage diseases (mucopolysaccharidoses, lipidoses, mucolipidoses), and se …
Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, …
Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.
Irurzun I, Natale MI, Agostinelli ML, Lamberti M, Montero D, Granda C, Mássimo JA, Manzur GB, Valinotto LE. Irurzun I, et al. Pediatr Dermatol. 2021 May;38(3):568-574. doi: 10.1111/pde.14560. Epub 2021 Mar 19. Pediatr Dermatol. 2021. PMID: 33742461 Review.
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis …
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic varian …
X-linked genodermatoses from diagnosis to tailored therapy.
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M. Medori MC, et al. Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. Clin Ter. 2023. PMID: 37994770 Free article. Review.
Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: keratinization defects, pigmentation defects, and inflammatory skin diseases. Typical examples are dyskeratosis congenita, keratosis follicu …
Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: ker …
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Mégarbané H, Mégarbané A. Mégarbané H, et al. Orphanet J Rare Dis. 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. Orphanet J Rare Dis. 2011. PMID: 21600032 Free PMC article. Review.
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may d …
The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis …
The site-2 protease.
Rawson RB. Rawson RB. Biochim Biophys Acta. 2013 Dec;1828(12):2801-7. doi: 10.1016/j.bbamem.2013.03.031. Epub 2013 Apr 6. Biochim Biophys Acta. 2013. PMID: 23571157 Free article. Review.
Ichthyosis follicularis: a case report and review of the literature.
Alfadley A, Al Hawsawi K, Al Aboud K. Alfadley A, et al. Pediatr Dermatol. 2003 Jan-Feb;20(1):48-51. doi: 10.1046/j.1525-1470.2003.03011.x. Pediatr Dermatol. 2003. PMID: 12558847 Review.
Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). ...
Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and c …
Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J, Bourrat E. Fischer J, et al. Acta Derm Venereol. 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. Acta Derm Venereol. 2020. PMID: 32147747 Free PMC article. Review.
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. ...Further sequencing methods covering the whole …
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and g …
24 results