research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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research SINDROMA CUSHING PADA KEHAMILAN
A pregnant woman with Cushing Syndrome got worse and sadly passed away.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
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 Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research Graham‐Little Piccardi Lassueur syndrome and review of the literature
GLPLS is a rare skin condition with specific hair loss and skin symptoms.
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.