August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
1 citations
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November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” Dermoscopy helps accurately diagnose and treat benign skin cysts.
January 2023 in “Pediatric Endocrinology Diabetes and Metabolism” Isolated pubic hair in infants is usually harmless and resolves on its own.
11 citations
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January 2023 in “World Journal of Clinical Cases” Idiopathic hirsutism might not be truly idiopathic but could be an early stage of hyperandrogenic disorders.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
5 citations
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November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
August 2025 in “Journal of Pediatric Endocrinology and Metabolism” A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
2 citations
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May 2016 in “Journal of dermatology” Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
December 2024 in “Annals of Medicine and Surgery” Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
November 2021 in “Khyber Medical University Journal” A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.
January 2026 in “Annals of Pathology and Laboratory Medicine” Accurate diagnosis of rare pilomatrix carcinoma is crucial for effective treatment.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
55 citations
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August 2003 in “Ultrasound in Obstetrics and Gynecology” Ultrasound and color Doppler can help diagnose and decide treatment for early puberty in young girls.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
January 2025 in “Iraqi Journal of Science” PDCD4 protein levels, affected by genetics and breastfeeding, may predict breast cancer treatment response.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
21 citations
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April 2010 in “Pediatrics in Review” Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
September 2023 in “Journal of the American Academy of Dermatology” Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
1 citations
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December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
136 citations
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March 1998 in “Oncogene” Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.