research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
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research Coexistence of alopecia areata and fixed drug eruption: An uncommon isotopic phenomenon?
A rare skin reaction occurred when a man took paracetamol, causing a new rash in an area already affected by hair loss.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Lack of a gonadal or adrenal androgenic mechanism for the hypertrichosis produced by diazoxide, phenytoin and minoxidil
These drugs cause hair growth without affecting testosterone or adrenal hormones.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research 494 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 Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research The Dermatology Life Quality Index (DLQI ) used as the benchmark in validation of 101 quality‐of‐life instruments: A systematic review
The DLQI is a key tool for measuring quality of life in dermatology.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research ODP537 A 1.6cm Androgen Secreting Ovarian Leydig Cell Tumor Evades Detection on Multiple Imaging Modalities
A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
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 Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research Acneiform eruptions caused by an epidermal growth factor receptor-tyrosine kinase inhibitor ZD 1839
ZD1839, a cancer drug, can cause mild skin rashes that are treatable without stopping the medication.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X
Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
research FRI-02 FROM GIRLS TO BOYS TO OLDER MEN, THE INTERESTING TALE OF THE GUEVEDOCES AND 5-ALPHA REDUCTASE INHIBITORS
The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
research Epidermoid Cyst with Foreign Body Granuloma Formation in Hip: A Case Misdiagnosed by Ultrasound
Epidermoid cysts can be better diagnosed with ultrasound by recognizing specific features and using clinical information.
research DNA Damage Response Mediates Pressure Overload–Induced Cardiomyocyte Hypertrophy
Targeting ATM could help manage heart cell enlargement due to pressure overload.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Investigation of the effects of dexpanthenol on brain tissue in experimental global cerebral ischaemia-reperfusion injury
Dexpanthenol helps protect the brain and improve motor skills after a stroke.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.