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.
59 citations
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November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
February 2012 in “World Allergy Organization Journal” Alopecia can be a symptom of Neonatal Lupus.
3 citations
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
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.
1 citations
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June 2014 in “International Journal of Dermatology” Pregnancy can trigger follicular mucinosis, which may resolve after delivery.
18 citations
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November 1994 in “Histochemical Journal” The enzyme PST is found in developing human kidneys and helps with detoxification and development.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
1 citations
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July 2022 in “Indian Journal of Dermatology” Bullous pyoderma gangrenosum can develop on cesarean scars and may require steroids for treatment.
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
February 2025 in “Quality in Sport” Pregnancy-related skin disorders need accurate diagnosis and treatment to prevent risks to the baby.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
54 citations
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February 2012 in “Pediatrics in Review” Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
10 citations
,
January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.