132 citations
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January 1987 in “Annals of Internal Medicine” Methimazole may cause skin defects in babies if taken during pregnancy.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
December 2021 in “Folia veterinaria” This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
4 citations
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November 2015 in “Aesthetic Plastic Surgery” Using tissue expanders for scalp reconstruction in patients with extensive Aplasia Cutis Congenita is effective and has minimal complications.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
80 citations
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March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
19 citations
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March 2021 in “Experimental and Therapeutic Medicine” This review examines recent literature on isotretinoin's teratogenic effects in both fertile females and males, analyzing its role in causing congenital malformations but provides no new clinical results.
This review discusses the potential risks of formaldehyde in hair keratin treatments like Brazilian blow-dry, and reports no new clinical results; it emphasizes the need for greater safety assessments including occupational exposure.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
1 citations
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August 1981 in “The Journal of Dermatology” This study reported that defects in the hair cuticle were found in every case of major structural hair abnormalities examined.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
11 citations
,
August 2013 in “Facial Plastic Surgery Clinics of North America” This article discusses the use of tissue expansion combined with older surgical techniques to repair large scalp defects and reports no new clinical results.
September 2021 in “Physiology News” This abstract provides template specifications for design materials but reports no new research findings.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
July 2018 in “Elsevier eBooks” This chapter details the causes and diagnostic process of pediatric alopecia, including trichoscopic findings, but reports no new clinical results.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
July 2002 in “Journal of applied cosmetology” This review discusses various syndromes and conditions associated with abnormal hair growth, including potential therapies, but reports no new clinical findings or results.
7 citations
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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.
March 2023 in “Revista Chilena de Urología” This review discusses post-finasteride syndrome, highlighting occasional adverse sexual and systemic effects in men and women, but reports no new research findings while emphasizing the need for better education about the drug's risks.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.