2 citations
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January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
4 citations
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January 2020 in “Indian dermatology online journal” Lichen simplex chronicus on the scalp can be diagnosed by specific hair and skin signs and treated with corticosteroids and therapy.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
7 citations
,
January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
January 2025 in “SAGE Open Medical Case Reports” Combination therapy may be more effective for difficult-to-treat scalp conditions.
22 citations
,
January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
82 citations
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November 1985 in “Archives of Dermatology” The newborn's skin condition improved over time, leaving only lighter skin patches.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
1 citations
,
April 2017 in “European Psychiatry” A patient's allergic reaction to clozapine resolved without stopping the medication, showing the importance of blood monitoring.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
October 2022 in “JAAD international” Most patients with autoimmune blistering diseases experienced some hair loss, which may be underreported and linked to disease severity.
25 citations
,
April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
Children with alopecia areata have lower BDNF levels, linked to worse symptoms and quality of life.
74 citations
,
July 1979 in “Lancet” Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
Mutations in specific genes cause different types of ectodermal dysplasias.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
26 citations
,
May 1991 in “Clinical and experimental dermatology” Oral etretinate improved hair length and reduced beading in monilethrix.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
February 2013 in “Pediatrics in Review” The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
Isotretinoin and other medications showed promising results for treating a rare scalp condition linked to severe acne.
3 citations
,
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.
3 citations
,
May 2017 in “BMJ Case Reports” A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
2 citations
,
July 2022 in “Cureus” Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
8 citations
,
November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.