research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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research Alopecia Areata Incognita
Alopecia areata incognita causes sudden hair thinning, responds well to steroids, and is more common in those with genetic hair loss conditions.
research Treatment of Refractory Segmental Vitiligo and Alopecia Areata in a Child with Upadacitinib and NB-UVB: A Case Report
Upadacitinib and narrowband UVB effectively treated a child's vitiligo and alopecia areata.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Approach to Managing Recalcitrant Alopecia Areata with Combination Therapy: A Series of Five Cases in Black Pediatric Patients
Combination therapy effectively regrows hair and reduces severity in Black children with stubborn Alopecia Areata.
research A review of monochromatic light devices for the treatment of alopecia areata
Monochromatic light devices, especially the 308-nm excimer laser, are promising for treating alopecia areata but more research is needed.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Scalp Hair Hypopigmentation in a Five-month-old Infant: A Quiz
research Alfatradiol (0,025 %) - Eine wirksame und sichere Therapieoption zur Behandlung der androgenetischen Alopezie bei Frauen und Männern
Alfatradiol (0.025%) is an effective and safe treatment for hair loss in both women and men.
research Vitamin D status in scarring and nonscarring alopecia
People with certain types of hair loss, especially lichen planopilaris and telogen effluvium, as well as African Americans, Asians, and men, are more likely to have severe vitamin D deficiency.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research A diagnostic clue: New onset alopecia sparing white hairs
Intralesional corticosteroids effectively treat localized alopecia areata, often sparing white hairs.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research A CLINICO-INVESTIGATIVE STUDY OF ALOPECIA AREATA WITH SPECIAL REFERENCE TO ITS ASSOCIATION WITH VARIOUS SYSTEMIC AND DERMATOLOGICAL DISORDERS
Alopecia Areata is often linked to other health issues like allergies, thyroid problems, and diabetes.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Argyria in a patient with a delusional disorder
A man with a mental disorder turned his skin blue-gray by drinking silver to treat warts.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Lack of Scalp and Body Hair on an 11-Month-Old Girl
An 11-month-old girl has no scalp or body hair, and the cause is being studied.
research A rare case of ophiasis pattern of alopecia areata in a child: a case report with Unani insights
Unani medicine may help treat a rare, hard-to-treat hair loss pattern in children.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research On the etiology of vitiligo and gray hair
Melanocytes are destroyed by factors needed for melanin production, causing vitiligo and gray hair.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Genetics of blond hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Peroxisome Proliferator Activated Receptor-Gamma Tissue Expression and Gene Polymorphism in Alopecia Areata in an Egyptian Sample
PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.