research Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence
A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.
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research Role of Platelet-Rich Plasma in the Management of Androgenetic Alopecia
PRP helps hair growth in common hair loss disorder.
research Treatment of Hereditary Hypotrichosis Simplex of the Scalp with Oral Minoxidil and Growth Factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Screened of Long Non-Coding RNA Related to Wool Development and Fineness in Gansu Alpine Fine-Wool Sheep
Long non-coding RNAs help regulate wool fineness in Gansu alpine fine-wool sheep.
research Clinicopathological Insights into the Phenotypic Variation of Autosomal Recessive Hypotrichosis/Wooly Hair by c.736T>A LIPH Mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Wooly Hair Palmoplantar Keratoderma: A Case Report
Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
research Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation
TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
research New Familial Association Between Ocular Coloboma and Loose Anagen Syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research A Homozygous Nonsense Mutation Identified in COL7A1 in a Family with Autosomal Recessive Dystrophic Epidermolysis Bullosa
A specific gene mutation causes a severe skin disorder in a family.
research CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Vitamin D Resistance: Tissue Resistance to Vitamin D and Vitamin D-Dependent Rickets Types I and II
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Clinical Report of a Holstein Calf with Ichthyosis
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research An Australian Family With Macular Dystrophy Linked to Autosomal Recessive Alopecia Universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
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 Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.