research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
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390-420 / 1000+ resultsresearch Hemangioma rubi no couro cabeludo
There's a red birthmark on the scalp.
research A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy
A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
research Concomitant presentation of alopecia areata in siblings: A rare occurrence
Two siblings both had a rare case of alopecia areata at the same time.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Polycystic ovaries: findings of pelvic ultrasonographies in an image examination clinic in Natal, Rio Grande do Norte, Brazil
Many women in Natal, Brazil, have polycystic ovaries according to ultrasound scans.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Targetoid Hair Regrowth Pattern in Alopecia Areata: A Case Series
A rare hair regrowth pattern can occur in some people with alopecia areata.
research Efficacy and safety of a novel anti‐HER2 therapeutic antibody RC48 in patients with HER2‐overexpressing, locally advanced or metastatic gastric or gastroesophageal junction cancer: a single‐arm phase II study
RC48 shows promise for treating certain advanced cancers, but more research is needed.
research Retiform Sertoli-Leydig Cell Ovarian Tumour Presenting with Psammoma Bodies: A Rare Case Report
A rare ovarian tumor was successfully treated with surgery and chemotherapy.
research An essential role for Rxrα in the development of Th2 responses
RXRα is crucial for proper immune response and links diet to immune function.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Spontaneous Lesions of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research A rare pediatric case of loose anagen hair syndrome
Loose anagen hair syndrome in children may improve with age, but treatment results vary.
research A rare case of ophiasis pattern of alopecia areata in a child: a case report with Unani insights
Unani medicine may help treat a rare, hard-to-treat hair loss pattern in children.
research Rare presentation of disseminated follicular lymphoma as an ill-defined reticular patch over the scalp and forehead
A woman with lymphoma had a rare skin rash on her scalp and forehead, which was hard to diagnose but responded well to treatment.