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The following term was not found in PubMed: follicularis-dwarfism-cerebral
Page 1
Sjogren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.
Fouzdar-Jain S, Suh DW, Rizzo WB. Fouzdar-Jain S, et al. Ophthalmic Genet. 2019 Aug;40(4):298-308. doi: 10.1080/13816810.2019.1660379. Epub 2019 Sep 12. Ophthalmic Genet. 2019. PMID: 31512987 Review.
Purpose: Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual disability. ...Other findings include retinal thinning, cystic macular degeneration, retinal pigmen …
Purpose: Sjogren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital …
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review.
Rand R, Baden HP. Rand R, et al. Arch Dermatol. 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. Arch Dermatol. 1983. PMID: 6336927 Review.
We report herein two cases of keratosis follicularis spinulosa decalvans (KFSD) and review the literature on this condition. The entity is one of a group of related disorders that shows keratosis pilaris with inflammation followed by atrophy. The clinical fea …
We report herein two cases of keratosis follicularis spinulosa decalvans (KFSD) and review the literature on this condition. The enti …
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.
Liakou AI, Esteves de Carvalho AV, Nazarenko LP. Liakou AI, et al. J Dermatol. 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. J Dermatol. 2014. PMID: 24801913 Review.
Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are part of a group of hereditary disorders of hair follicle keratinization involving follicular inflammation and subsequent atrophy. ...We have reviewed the five almost ident …
Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are part of a group of hereditary disorder …
Unusual and recently described cutaneous atrophic disorders.
Chisholm C, Miedler J, Etufugh CN, Ghali F, Cockerell CJ. Chisholm C, et al. Int J Dermatol. 2011 Dec;50(12):1506-17. doi: 10.1111/j.1365-4632.2011.04938.x. Int J Dermatol. 2011. PMID: 22097997 Review.
Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not be appreciated as atrophy in the clinical setting. Clinicians should be familiar with the common or classic disorders causing cutaneou …
Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not b …
The cutaneous elastoses.
Reed RJ, Clark WH, Mihm MC. Reed RJ, et al. Hum Pathol. 1973 Jun;4(2):187-99. doi: 10.1016/s0046-8177(73)80006-1. Hum Pathol. 1973. PMID: 4574686 Review. No abstract available.
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. ...Neuropathological findings showed an unusual deformation of the temporal lobes and olivocerebellar atrophy. Cytogenetic and …
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males s …
Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Castori M, et al. Acta Derm Venereol. 2008;88(6):607-12. doi: 10.2340/00015555-0547. Acta Derm Venereol. 2008. PMID: 19002348 Free article. Review.
Schopf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. ...We report here on two, unrelated patients presenting with additional …
Schopf-Schulz-Passarge syndrome is a rare ectodermal dysplasia, characterized chiefly by multiple eyelid apocrine hidrocystomas, palm …
Kindler syndrome: report of two cases and review of the literature.
Forman AB, Prendiville JS, Esterly NB, Hebert AA, Duvic M, Horiguchi Y, Fine JD. Forman AB, et al. Pediatr Dermatol. 1989 Jun;6(2):91-101. doi: 10.1111/j.1525-1470.1989.tb01004.x. Pediatr Dermatol. 1989. PMID: 2664740 Review.
Both had acral bullae, generalized poikiloderma with prominent atrophy, and acral keratoses. One patient, with sporadic disease, had, in addition, urethral and subglottic stenoses, webbing of digits, and poor dentition. ...The results of cutaneous histopathology, el …
Both had acral bullae, generalized poikiloderma with prominent atrophy, and acral keratoses. One patient, with sporadic diseas …
Hereditary mucoepithelial dysplasia. Case report and review of the literature.
Scheman AJ, Ray DJ, Witkop CJ Jr, Dahl MV. Scheman AJ, et al. J Am Acad Dermatol. 1989 Aug;21(2 Pt 2):351-7. J Am Acad Dermatol. 1989. PMID: 2666466 Review.
Hereditary mucoepithelial dysplasia, a dyshesive, dyskeratotic epithelial syndrome caused by an abnormality in desmosomes and gap junctions, involves the mucosae, skin, hair, eyes, and lungs. ...Histologic examination of gingival sections showed a dyshesive epithelium with …
Hereditary mucoepithelial dysplasia, a dyshesive, dyskeratotic epithelial syndrome caused by an abnormality in desmosomes and gap jun …
[Congenital poikiloderma].
Marghescu S. Marghescu S. Z Hautkr. 1989 Mar 15;64(3):167-9. Z Hautkr. 1989. PMID: 2655322 Review. German.
Poikiloderma is characterized by the syntopy of diffuse atrophy, leukomelanodermia and teleangiectasia. We differentiate between symptomatic, idiopathic and congenital forms. ...On account of distinctive features - such as the consanguinity of the parents, cataracts, leuko …
Poikiloderma is characterized by the syntopy of diffuse atrophy, leukomelanodermia and teleangiectasia. We differentiate between symp …
12 results