research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
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450-480 / 1000+ resultsresearch A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Cells to Surgery Quiz: April 2020
Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
research Dermatosis del adolescente
Adolescents often face skin issues like acne and dermatitis due to various factors, affecting their quality of life.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Update on Hormonal Therapy in Hidradenitis Suppurativa
Hormonal therapies, especially antiandrogens, can help manage Hidradenitis Suppurativa.
research A rare case of chronic genian fistula with oral mucosal hair follicle inclusion: case report and review of the literature
Accurate diagnosis and management of rare genian fistulas require combined clinical, radiologic, and histopathologic evaluations.
research Localized Acquired Hypertrichosis Associated with the Application of a Splint
A 16-year-old boy's arm hair grew more after wearing a splint, but it returned to normal in 8 months.
research 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
research Fifteen-minute consultation: Approach to the adolescent presenting with hirsutism
Hirsutism in teens is often due to polycystic ovarian syndrome and needs careful assessment and support.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research Management of hidradenitis suppurativa
Effective treatment for hidradenitis suppurativa varies, with antibiotics commonly used and surgery as an option, but no single method is universally successful.
research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
research 439: Outcomes of the use of Finasteride in the Treatment of Recurrent Priapism in Sickle Cell Anemia. Three Years of Experience
research Ejaculations and Benign Prostatic Hyperplasia: An Impossible Compromise? A Comprehensive Review
Men with BPH should discuss potential sexual side effects with doctors before treatment, as some treatments can affect ejaculation.
research Androgenetic Alopecia
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 A rare coexistence of alopecia areata and lichen planus
A man had both alopecia areata and lichen planus, which is uncommon.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Intrinsic factors in the pathogenesis of hidradenitis suppurativa: Genetics, hormones, and the microbiome
Genetics, hormones, and microbiome changes contribute to hidradenitis suppurativa.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Prevalence of Skin Diseases among Male Adolescent and Post‐Adolescent Boarding School Students in Turkey
Over half of the students had skin diseases, mainly foot issues and acne, with many unaware or untreated.