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Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
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research 1322 Molecular profiling of frontal fibrosing alopecia (FFA) reveals TH1 and JAK-STAT up-regulation with no suppression of hair keratins
Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
research Characterization of Prostaglandin F2α Receptors in Human Eyelids
PGF2α receptors in human eyelids are found in specific parts of hair follicles, explaining eyelash changes with glaucoma treatment.
research Assessment of scalp hair survivin in patients with premature greying of hair
Examining Survivin levels may help understand premature greying of hair.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Smooth muscle cell expression of a constitutive active form of human Profilin1 accelerates cutaneous wound repair
Profilin1 speeds up wound healing.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research 265 Loss of Langerhans cells in scar lesion of lichen planopilaris is caused by downregulation of integrin αvβ6 in the epidermal keratinocytes
Scarred skin in lichen planopilaris loses immune cells due to a decrease in a specific protein in skin cells.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Expression of Neutrophil Gelatinase-Associated Lipocalin in Calcium-Induced Keratinocyte Differentiation
NGAL may help maintain skin balance and is linked to skin disorders and cancers.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Líquen plano pilar e alopecia frontal fibrosante: correlação dos achados clínicos e dermatoscópicos com o grau de inflamação do exame histopatológico
Clinical signs don't match inflammation levels in lichen planopilaris and frontal fibrosing alopecia.
research Twenty‐nail dystrophy and alopecia areata in an adult male with thymoma‐associated myasthenia gravis: A case report
Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Frontal fibrosing alopecia
Hormonal imbalances may play a role in frontal fibrosing alopecia, and antiandrogenic drugs combined with steroids are currently the most effective treatment.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research 1388 Clinicopathological characteristics of fibrosing alopecia in a pattern distribution: A single-center, retrospective study
The study suggests fibrosing alopecia in a pattern distribution has distinct features and may vary by race.
research The effects of micro-grafts in the treatment of androgenetic alopecia
Micro-grafts improved hair growth in patients with hair loss.
research Nonscarring scalp alopecia: Which laboratory analysis should we perform on whom?
Women with telogen effluvium should be tested first for vitamin and mineral deficiencies.
research 315 Butyrophilin-like 2 (BTNL2) controls auto-aggressive dermal γδT lymphocytes that attack human hair follicles.
BTNL2 helps protect hair follicles from immune attacks.
research Update on Frontal Fibrosing Alopecia
Best treatment for Frontal Fibrosing Alopecia is 5-alpha-reductase inhibitors and intralesional corticosteroids.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Resolution of refractory generalized granuloma annulare after treatment with alitretinoin
Alitretinoin helped clear up a skin condition called generalized granuloma annulare in an elderly man.
research Graham-Little Syndrome — a rare entity of both scarring and non-scarring alopecia concomitance
Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients
The visfatin GT genotype may increase the risk of Alopecia Areata.