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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90-120 / 1000+ resultsresearch A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research Onychogryphosis by an elastic wire
research Two Cases of Hypertrichosis Cubiti
Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
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.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
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 Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Hair-tourniquet syndrome ??? multiple toes and bilaterality
Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Elkonyxis associated with habit-tic deformity: Two case reports
Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
research Association between digit ratio (2D:4D) and palmaris longus muscle agenesis according to gender: a radiological study
Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Hair tourniquet syndrome in an infant
A baby's toe was saved from serious damage by quickly removing a hair wrapped tightly around it.