September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
26 citations
,
August 2014 in “Veterinary Dermatology” Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
54 citations
,
January 1986 in “Medical clinics of North America/The Medical clinics of North America” Skin conditions in multiple myeloma patients vary with the timing of bone marrow transplants.
6 citations
,
May 2002 in “British journal of dermatology/British journal of dermatology, Supplement” A rare skin condition linked to leukemia improved with chemotherapy.
12 citations
,
April 2004 in “PubMed” A rare skin condition in a baby showed unusual fat and hair follicle changes.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
10 citations
,
August 2016 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Vitiligo patients often have nail problems, so checking their nails is important.
1 citations
,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology” Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
23 citations
,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
2 citations
,
June 2023 in “Clinical and Experimental Neuroimmunology” Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
48 citations
,
September 2011 in “British Journal of Dermatology” Epigenetic changes in blood cells may contribute to alopecia areata.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
18 citations
,
January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
51 citations
,
May 1984 in “Journal of the American Academy of Dermatology” Benign follicular mucinosis involves immune cells attacking hair follicles.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
9 citations
,
January 2002 in “Dermatology” Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
4 citations
,
November 2016 in “Pediatric Clinics of North America” The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
1 citations
,
March 2014 in “Journal of Innovative Optical Health Sciences” Hair structure worsens as tumors grow in mice.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.