research Successful Use of Topical Minoxidil in the Treatment of Hypotrichosis Associated with Desmoplakin Mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
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research Heterozygous 21-Hydroxylase Deficiency as a Cause of Hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Genomic Markers and Personalized Medicine in Androgenetic Alopecia: A Comprehensive Review
Personalized treatments for hair loss are becoming more effective by using genetic information.
research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Successful Topical Minoxidil Treatment for Hair Density and Length in Trichorhinophalangeal Syndrome Type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Chronic Overlapping Pain Conditions And Nociplastic Pain
Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research 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 Alopecia Totalis in an Infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Botanical Extracts in Combination Improve Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations
Botanical extracts can help treat hair loss in people with certain genetic conditions.
research Disorders of Hair Pigmentation
Hair color is determined by melanin and can be affected by genetic conditions like albinism.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research SnapshotDx Quiz: August 2019
The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.
research Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research A 9-Month-Old Infant with Severe Scalp Dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Disorders Linked to Insufficient Androgen Action in Male Children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Disorders Linked to Insufficient Androgen Action in Male Children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research Cutaneous Lupus Erythematosus: A Comprehensive Review
The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.