research Early Diffuse Alopecia in a Neonate with Congenital Syphilis
A newborn with congenital syphilis had unusual hair loss possibly caused by the infection.
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research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Resolution of Pseudoainhum with Acitretin Therapy in a Patient with Palmoplantar Keratoderma and Congenital Alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
research Sexual Function in Women with Androgen Excess Disorders: Classic Forms of Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
Women with congenital adrenal hyperplasia (CAH) have more sexual function issues than those with polycystic ovary syndrome (PCOS), but physical activity can improve sexual functioning in all women.
research Prioritization of Therapy Uncertainties in Congenital Ichthyosis: Results from a Priority Setting Partnership
The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
research Congenital Dyserythropoietic Anemia and Dyskeratosis in Australian Poll Hereford Calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Congenital Localized Basaloid Follicular Hamartoma: A Case Report and Review of the Literature
Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
research Congenital Atrichia
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Congenital Cutaneous Lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
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 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 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 The Distribution of Preputial Vessels in Different Severity of Rat Congenital Hypospadias Model: Imaging Study Using Micro-Computerized Tomography
The junction of the inner and outer prepuce with good blood flow is ideal for surgical flaps.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: A Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Congenital Atrichia Associated With Nevus Flammeus: A Rare Association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
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 Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
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 Familial Congenital Generalized Hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Acne Due to Congenital Adrenal Hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Clinical, Biochemical, and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Isotretinoin-Unresponsive Acne as a Sign of a Congenital Disorder: A Case of 21-Hydroxylase Deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Approaching Fertility in Congenital Adrenal Hyperplasia: Exploring P30L Mutation-Induced 21-Hydroxylase Deficiency
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Congenital Alopecia Areata: A Systematic Review
Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.