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research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Multiparasitism in Sapajus nigritus (Goldfuss 1809) (Primates: Cebidae) kept illegally in home captivity in the state of Santa Catarina, Brazil – Case report
Illegal wildlife captivity poses health risks and highlights the need for conservation and public health awareness.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
research Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research Liver transplantation for propionic acidemia in children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research This Month in JAAD: October 2021
Oral baricitinib is effective and safe for treating alopecia areata.
research Short anagen syndrome: A case series and algorithm for diagnosis
Biotin, alone or with minoxidil, effectively treats short anagen syndrome.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Síndrome dos ovários policísticos: correlação dos fenótipos com as manifestações metabólicas
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
research BULLOUS LUPUS, AN UNCOMMON CAUSE OF ATYPICAL ESOPHAGITIS: A CASE REPORT
Bullous lupus can cause severe esophageal issues but responds well to corticosteroids and azathioprine.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Baricitinib Therapy for Moderate to Severe Alopecia Areata: A Retrospective Review of 95 Japanese Patients
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 Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
research Effectiveness of baricitinib in severe alopecia areata in real life: a retrospective study of 87 patients.
Baricitinib is effective and safe for treating severe alopecia areata.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Concomitant presentation of alopecia areata in siblings: A rare occurrence
Two siblings both had a rare case of alopecia areata at the same time.
research Correlation of Metabolic Syndrome in Different Phenotypes of Polycystic Ovary Syndrome and Pregnancy Rate
Different types of PCOS affect metabolic syndrome and pregnancy rates differently.