research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
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research Congenital cutaneous lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Congenital triangular alopecia
Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
research Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Congenital triangular alopecia - A case report
Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia
Inhaled substances in e-cigarettes can cause hormone imbalances similar to congenital adrenal hyperplasia.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Congenital Lipedematous Alopecia in a 6-Year-Old Asian Boy
A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Giant Congenital Blue Nevus Presenting as Cutis Verticis Gyrata: A Case Report and Review of the Literature
Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Giant congenital cerebriform pigmented nevus of scalp: case report
Complete removal of large scalp nevi is recommended to prevent complications.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complex autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol and aldosterone deficiency and excess adrenal androgens. This systematic review highlights the disorder's broad clinical spectrum, necessitating a multidisciplinary approach for diagnosis and treatment. Universal newborn screening using 17OHP measurement has reduced mortality from adrenal crises, especially in boys. Current treatments with hydrocortisone and fludrocortisone are effective but imperfect, as they do not mimic the natural circadian rhythm of cortisol and carry long-term risks. Future therapeutic options, such as CRF receptor antagonists, ACTH secretion inhibitors, and gene therapy, are promising but not yet standard practice.
research Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
research Clinical and trichoscopic features of early congenital syphilis: a single-center cross-sectional study
Trichoscopy can help diagnose early congenital syphilis in newborns.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Congenital goiter in sibling goat kids
Two sibling goat kids were born with goiter and hair loss.
research Incidence of Congenital Goitre in Goats, in and Around Hyderabad, India
Congenital goitre in goats near Hyderabad is linked to iodine deficiency and can be treated effectively with medication.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.