research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research IMMUNOHISTOCHEMICAL DEMONSTRATION OF POLY(ADENOSINE DIPHOSPHATE‐RIBOSE) SYNTHESIS IN HUMAN SKIN
Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
research Tinea Capitis in Adult Libyan Female
An adult Libyan woman was successfully treated for a rare scalp infection usually seen in children.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Atypical necrobiosis lipoidica of the face
A 36-year-old man had unusual skin lesions on his face without hair loss.
research Œdème angioneurotique sans anomalie de l’inhibiteur de la C1 estérase : efficacité de l’acide tranexamique
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
research Characterisation of Ovine KRTAP19-3 and Its Impact on Wool Traits in Chinese Tan Sheep
Specific gene variants affect wool traits in Chinese Tan sheep.
research リリース：Microsoft RSAT for Windows 7 SP1（20110412-1）
Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
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 Case Report: Diffuse Hypertrichosis in the Course of Hepatitis C Treatment by IFN-α and Ribavirin
A man developed excessive hair growth after treatment with interferon-alpha and ribavirin for hepatitis C.
research Live-cell Imaging and Analysis of Germline Stem Cell Mitosis in Caenorhabditis elegans
The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Monkeypox: A Histopathological and Transmission Electron Microscopy Study
The study found specific skin and cell changes in patients with monkeypox, helping diagnose and understand the disease.
research Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis
Localized hair growth and fat loss may share a common cause in lupus panniculitis.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research In silico investigation of possible multi-target drugs against Glutamate S-transferase and prolyl tRNA synthetase in Onchocerca volvulus
Bedaquiline, Telmisartan, Diosmin, Azelastine, and Adapalene may be effective treatments for onchocerciasis.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.