research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
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research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
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 Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Sertoli-Leydig tumor in a 17-year-old girl: a case report
A 17-year-old girl was diagnosed with a rare ovarian tumor, emphasizing the need for fertility preservation and psychosocial care.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research Hair tourniquet syndrome of penis: A rare situation in boys with serious complications if not recognized
Hair wrapped tightly around a boy's penis can cause serious damage if not treated quickly.
research Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature
A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.