53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
52 citations
,
June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
46 citations
,
September 2010 in “Veterinary Dermatology” This retrospective study documented various skin diseases in alpacas, reporting bacterial infections as the most common, along with other conditions described for the first time.
44 citations
,
January 2004 in “American journal of clinical dermatology” This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.
41 citations
,
December 2008 in “Pediatric Dermatology” This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
34 citations
,
October 2011 in “Journal of the American Academy of Dermatology” This review covers the diverse cutaneous and systemic presentations of sarcoidosis in patients with skin of color, emphasizing the importance of early recognition to improve outcomes despite a generally poorer prognosis compared to Caucasians.
32 citations
,
March 1988 in “International Journal of Dermatology” This review discusses current concepts on the role of retinoids in keratinization and does not report new clinical results; the authors emphasize the complexity of retinoid effects on skin.
31 citations
,
January 1981 in “Pharmacology & Therapeutics” In this study, 13-cis-5S*,8S*-epidioxy-5,8-dihydroretinoic acid was found to be significantly more cytotoxic to cancer cell lines than other retinoic acid analogs evaluated.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” This case report describes a 4-year-old boy with Netherton syndrome, where trichoscopy importantly aided diagnosis and is recommended for all children with erythroderma.
26 citations
,
March 2014 in “Journal of cutaneous medicine and surgery” This study provides evidence-based recommendations for the off-label use of topical vitamin D in treating certain skin conditions, but highlights the need for higher quality studies for further validation.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
16 citations
,
October 2014 in “Cell death and disease” This study found that over- and ectopic-expression of FoxN1 in early life negatively affected the development of thymic epithelial cells, T and B cells, and skin epithelial cells.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” In this study, symmetrical acrokeratoderma was observed to frequently occur alongside ichthyosis vulgaris, with no specific therapy available for the condition.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
11 citations
,
July 2022 in “International Journal of Molecular Sciences” This study found that treating reconstructed human epidermis with beta-lipohydroxy salicylic acid increased tight junction remnants in the stratum corneum, potentially affecting skin cohesion and desquamation.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
10 citations
,
February 2022 in “JMIR Dermatology” This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.
8 citations
,
November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
7 citations
,
November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
6 citations
,
July 2020 in “Photodermatology Photoimmunology & Photomedicine” This review discusses the link between various skin diseases, such as ichthyosis and psoriasis, and the occurrence of rickets, though no new clinical results were reported.
6 citations
,
January 2013 in “IOSR Journal of Dental and Medical Sciences” This study identified xerosis and diffuse hair loss as the most common skin manifestations in patients with hypothyroidism, observed in 38.09% and 34.8% of participants, respectively.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
5 citations
,
December 1978 in “PubMed” This article reviews the connection between malabsorption syndrome and skin diseases, reporting common skin complications and noting their improvement with malabsorption treatment; it offers no new clinical results.
4 citations
,
May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” This study reported dramatic improvements in five collodion baby patients with lamellar ichthyosis treated with oral retinoic acid, noting hair loss as the sole adverse effect, emphasizing the treatment's promising efficacy for physicians.
4 citations
,
October 2005 in “Pediatric Transplantation” This study identified that pediatric transplant recipients experience specific skin changes related to medication use, with unique conditions like ichthyosiform xerosis in kidney recipients and skin scaling with pellagroid appearance in bone marrow recipients.