Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
10 citations
,
May 2012 in “Journal of Craniofacial Surgery” Cerament effectively corrected forehead irregularities in one patient, and various surgical techniques successfully reconstructed perioral soft tissue in 14 patients.
1 citations
,
May 1999 in “Journal of Oral and Maxillofacial Surgery” Patients with mandible reconstruction had better quality of life and function than those with soft-tissue reconstruction.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
37 citations
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September 2014 in “Plastic and Reconstructive Surgery” Combining microsurgery with craniofacial reconstruction improves aesthetic results and reduces harm to the area where tissue is taken from.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” Congenital atrichia with papular lesions causes permanent hair loss in children.
May 2018 in “Dermatologic Surgery” 16 citations
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December 2006 in “Chinese Medical Journal” Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
October 2018 in “Biomedical Journal of Scientific & Technical Research” Otoplasty can cause permanent hair loss if bandages are too tight.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
12 citations
,
November 2011 in “Pediatric dermatology” A 16-year-old boy had a rare case of Becker's nevus on his face and mouth.
January 2024 in “Indian Journal of Plastic Surgery/Indian journal of plastic surgery” The flap advancement technique effectively treats severe scalp skin conditions, preserving hair and improving appearance.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
May 2022 in “Голова и шея.” COVID-19-positive patients with prosthetic speech implants face increased risks and need special care.
3 citations
,
January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
29 citations
,
October 2001 in “British Journal of Ophthalmology”
2 citations
,
October 2007 in “Kafrelsheikh Veterinary Medical Journal” Buffalo lips are well-suited for eating plants.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
October 2025 in “Folia Morphologica” Lymph vessels in airways vary by location, with the most in the upper pharynx and changes after birth.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.