research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
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research Low prevalence of twisted hair in anorexia nervosa
Twisted hair is rare in severe anorexia nervosa, found in only 2 out of 30 patients.
research Hair Coil Penile Tourniquet Syndrome in an Unusual Age
An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research A Closure Option for Sinuous Hairline Preservation on the Upper Forehead
research Commentary on Repair of Apical Triangle Defects Using Melolabial Rotation Flaps
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Contouring of the Forehead Irregularities (Washboard Effect) With Bone Biomaterial
Cerament effectively corrected forehead irregularities in one patient, and various surgical techniques successfully reconstructed perioral soft tissue in 14 patients.
research Potential Sequels of Undiagnosed Marfan Syndrome: A Case Report
Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
research Hair-Thread Tourniquet Syndrome in an Infant With Bony Erosion
A hair wrapped tightly around an infant's toe caused severe damage, requiring early removal and possibly surgery to prevent worse outcomes like amputation.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
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 Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Pathogenesis in pili torti: morphological study
Pili torti hair twists due to uneven outer root sheath cell development.
research Pohl-Pinkus constrictions of hair following chemotherapy for Hodgkin's disease
Chemotherapy caused the patient's hair to have alternating thick and thin segments.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis
Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
research Cómo hacer que dos más dos sumen cinco
Gentle hair care and some medications can help manage hair shaft disorders, but no specific treatment exists for congenital issues.
research Bilateral vocal cords palsy in adolescent Systemic Lupus Erythematosus patient
A 17-year-old girl with lupus had vocal cord paralysis but improved with treatment.
research BH11 Cutis verticis gyrata associated with chronic traction
Tight hairstyles can cause a rare scalp condition with thick skin folds.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.