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.
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210-240 / 1000+ results research Sexuality in Patients with Hidradenitis Suppurativa: Beliefs, Behaviors and Needs
Hidradenitis suppurativa negatively affects patients' sexual lives and relationships, highlighting the need for better support and communication about sexual health.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research Left Testicular Hypoplasia and Right Cryptorchid Testes Seminoma in a German Shepherd Dog
Testicular abnormalities in dogs should be treated to prevent complications like seminoma.
research Association Between Urolithiasis and Hidradenitis Suppurativa: A Retrospective Cohort Study
People with hidradenitis suppurativa have a higher risk of kidney stones.
research Adult Patients with Aphallia: Were they Fertile?
The document does not determine if adults with aphallia are fertile.
research Ectopic hair on the glans penis
A man grew hair on his penis, which is not common, and needed surgery to remove it.
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
research Hidradenitis Suppurativa Tunnels: Unveiling a Unique Disease Entity
Hidradenitis suppurativa tunnels worsen the disease and often need surgery because current treatments are not very effective.
research Laser ablation of abnormal skin pigmentation post syndactyly release
Laser treatment can fix skin color issues after syndactyly surgery.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Pilonidal omphalitis in a teenager: A case report
Surgical removal of hair effectively treated pilonidal omphalitis in a teenager.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Viewpoint 1
Hidradenitis suppurativa is a complex, non-infectious skin condition with no single cause, difficult to treat, and greatly affects quality of life.
research The diagnosis and management of haematospermia
Haematospermia is usually harmless but needs careful checking to ease anxiety and find any serious causes.
research Polypoid Cystitis and Bilateral Hydronephrosis Mimicking Urothelial Carcinoma
Polypoid cystitis can mimic bladder cancer but can be effectively treated with surgery, stents, and medication.
research Premature pubarche during minipuberty – literature review and two case reports
Isolated pubic hair in infants is usually harmless and resolves on its own.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Is Prenatal Sex Hormone Balance a Risk Factor for the Development of Hidradenitis Suppurativa
Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
research 169 Red Sky in Morning: A Case of Concurrent Hematospermia and Anorgasmia
Treating hematospermia can improve sexual function and reduce anxiety.
research Trichilemmal cysts of the scrotal wall
Ultrasound is effective for diagnosing scrotal cysts, and prompt treatment is crucial to prevent severe complications.
research Pilonidal Sinus Disease is Associated with Severe Hidradenitis Suppurativa in a Spanish Cohort
Pilonidal sinus disease is linked to more severe hidradenitis suppurativa.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research High-risk male teenager with concurrent gonorrhea and syphilis infection: An alarming call
The document concludes that it's concerning when a teenage boy has both gonorrhea and syphilis at the same time.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.