2 citations
,
December 1997 in “Journal of The American Academy of Dermatology” The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
24 citations
,
November 2003 in “Australasian Journal of Dermatology” A rare skin cancer caused hair loss and spread, needing multiple treatments.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
6 citations
,
March 2009 in “Annals of Saudi Medicine” Finasteride use during early pregnancy may cause limb deformities in babies.
9 citations
,
December 2004 in “Archives of Pathology & Laboratory Medicine” The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
21 citations
,
July 2005 in “European Journal of Emergency Medicine” Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
1 citations
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May 2019 in “The Journal of Pediatrics” The baby's hair loss was due to congenital syphilis, which was treated with penicillin.
January 2014 in “International Journal of Dermatology and Venereology” A man with hair loss and a scalp lump was diagnosed with a diffuse neurofibroma but chose not to have surgery.
1 citations
,
July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
35 citations
,
December 2009 in “Lupus” Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
7 citations
,
July 2003 in “Clinics in Dermatology” The article helps identify common, non-harmful skin conditions in newborns to avoid undue concern and treatment.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
9 citations
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June 2016 in “The Cerebellum” 2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.