research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
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420-450 / 1000+ resultsresearch Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
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 A Retrospective Study on the Characteristics of Androgenetic Alopecia Among Asian Races in the National Skin Centre, a Tertiary Dermatological Referral Centre in Singapore
Most patients with hair loss sought treatment for cosmetic reasons, were unhappy about their appearance, and had a family history of the condition, suggesting it may be inherited.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Familial Congenital Generalized Hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Frontal Fibrosing Alopecia: Literature Review of General, Pathophysiological, Diagnostic, and Treatment Aspects
Early diagnosis of alopecia frontal fibrosante is crucial, but treatment remains controversial and varies.
research The Role of Rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population
The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day
Trichoscopy helped diagnose a teenage girl's hair loss as monilethrix.
research Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Monilethrix
Monilethrix causes short, fragile hair with no specific treatment available.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Hereditary Mucoepithelial Dysplasia: Unique Histopathological Findings in Skin Lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s Nodular Degeneration of Cornea: A Rare Association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.