12 citations
,
March 2013 This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.
12 citations
,
August 1988 in “Histopathology” This case report describes a giant pigmented tumor of the scalp in a 47-year-old woman and suggests a possible dual origin involving neural crest differentiation.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
11 citations
,
February 1989 in “Journal of veterinary medicine. Series A” This study observed that congenital hypotrichosis in crossbred cattle is linked to short, curly, dilute-color hair, potentially due to color dilution mutants in European breeds.
10 citations
,
November 2019 in “Neuroendocrinology” This study shows that measuring 17-hydroxyprogesterone concentrations in scalp hair may be a useful noninvasive tool for monitoring treatment in adults with congenital adrenal hyperplasia.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review discusses updates in the genetics and clinical understanding of congenital ichthyosis and highlights the addition of N-acetylcysteine and topical enzyme replacement to the treatment options, without providing new clinical results.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.
9 citations
,
May 2016 in “Veterinary dermatology” This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.
9 citations
,
April 2016 in “Clinical Endocrinology” This study suggests that measuring scalp hair 17-hydroxyprogesterone and androstenedione concentrations can be a promising tool for monitoring treatment in children with congenital adrenal hyperplasia.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
7 citations
,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
7 citations
,
January 2013 in “Hormone Research in Paediatrics” This case report describes an adult female with congenital adrenal hyperplasia who developed secondary amenorrhea and hair loss due to androgen overproduction from ovarian adrenal rests, detectable only after pelvic venous sampling, and normalizing after unilateral oophorectomy.
7 citations
,
August 2012 in “The Journal of Urology” This study found that despite androgen excess and genitourinary masculinization, adult women with congenital adrenal hyperplasia did not exhibit notable prostatic growth.
7 citations
,
December 2011 in “InTech eBooks” This review discusses current and evolving treatment strategies for congenital adrenal hyperplasia in adolescents and adults, focusing on glucocorticoid and mineralocorticoid therapy and the management of insulin resistance, without reporting new clinical results.
7 citations
,
November 2006 in “Pediatric Dermatology” This article describes the first reported case of alopecia in a neonate with congenital syphilis.
7 citations
,
July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
6 citations
,
February 2019 in “JAAD case reports” This case report suggests acitretin as a potential treatment for pseudoainhum, following the successful resolution of the condition in a patient with palmoplantar keratoderma and congenital alopecia.
6 citations
,
June 1993 in “Veterinary Dermatology” This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.
6 citations
,
April 1993 in “Journal of the Royal Society of Medicine” Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
5 citations
,
June 2020 in “Journal of Endocrinological Investigation” The study observed that women with congenital adrenal hyperplasia experience more impaired sexual functions and are more often homosexually or bisexually oriented than those with polycystic ovary syndrome.
5 citations
,
October 2018 in “Dermatologic therapy” This case report describes the first recorded instance of congenital triangular alopecia in the mid-frontal scalp region, challenging the assumption that it is restricted to the frontotemporal area.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
5 citations
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August 2015 in “British journal of dermatology/British journal of dermatology, Supplement” The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
5 citations
,
October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.