research Bilateral Eyelid Pseudoptosis From Lipogranulomas of the Preaponeurotic Fat Pads
Surgical removal of abnormal fat pads fixed the woman's eyelid issue caused by likely silicone injections.
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research Aromatase inhibitor–induced hair loss in two adolescents
Two teenage boys lost hair after taking a drug for growth, which was not a known side effect for kids.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Testosterone-Secreting Adrenal Adenoma That Contained Crystalloids of Reinke in an Adult Female Patient
Leydig cells can cause testosterone-secreting adrenal tumors in women.
research Overexpression of Hedgehog Signaling Is Associated with Epidermal Tumor Formation in Vitamin D Receptor–Null Mice
Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
research 24. 力発揮および操作性からみた下肢運動の一側優位性(神経・感覚,一般口演,第63回日本体力医学会大会)
Men with early-onset hair loss are less responsive to bromocriptine's heart and metabolism benefits.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research 742 Augmentation of HGF signaling: Potential for enhancing hair follicle neogenesis and development in bioengineered skin
Boosting HGF signaling could improve the creation of hair follicles in lab-made skin.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Features of hyperandrogenism in men
Androgen levels can increase at any age, affecting symptoms like acne, hair loss, and prostate size.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Zinc and copper levels in serum and hair in relation to somatic growth.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Signs of Potential Androgen Excess Across the Lifespan in a US-based Digital Cohort Study
Potential androgen excess signs vary by demographics and health, needing inclusive evaluation.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Baldness, acne and testicular germ cell tumours
Men with testicular cancer were less likely to experience baldness and severe acne.
research Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening
The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
research ANDROGEN AND CORTISOL SECRETING ADRENOCORTICAL ONCOCYTOMA WITTH UNCERTAIN MALIGNANT POTENTIAL
The woman had a rare adrenal tumor removed, and she recovered well with no signs of the tumor returning.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Is increased constitutive skin and hair pigmentation an early sign of puberty?
Darker skin in 10-year-old girls may be an early sign of puberty.
research Lower Extremity Cramping and Palpitations in a 17-Year-Old Boy
The boy's symptoms improved with thyroid treatment, and he lost weight, but occasional palpitations persisted.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research SUN-005 Hirsutism Due to Bilateral Leydig Cell Tumors
A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.