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research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report

2 citations , January 2024 in “Revista Paulista de Pediatria”

This case report describes a 6-year-old girl with a severe phenotype of mandibuloacral dysplasia type A (MADA) linked to a rare homozygous LMNA missense mutation (c.1579C>T). The patient exhibited subtotal alopecia, distinct craniofacial features, generalized lipodystrophy, joint stiffness, and significant bone and skin abnormalities. Radiological findings included severe bone dysplasia and osteopenia. MADA, an autosomal recessive disorder, typically results from the p.R527H mutation in the LMNA gene, but this case involves the rare p.R527C mutation, marking the sixth family reported with this mutation.

research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

4 citations , May 2023 in “Cells”

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers

2 citations , June 2013 in “Journal of Clinical Pathology”

The LMNA mutation affects skin structure even in asymptomatic carriers.

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

4 citations , January 2023 in “Journal of Clinical Investigation”

Specific mutations in a receptor cause facial abnormalities and hair loss.

research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome

11 citations , March 2020 in “American Journal of Medical Genetics Part A”

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay

January 2023 in “Pesquisa Veterinária Brasileira”

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

research Syndromes of Severe Insulin Resistance (SSIRs)

November 2004

The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research A Clinical Approach to Severe Insulin Resistance

32 citations , January 2007 in “KARGER eBooks”

Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.

research Ocular manifestation in progeria: A case report

July 2020 in “Nepalese journal of ophthalmology”

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

research Madarosis: A marker of many Maladies

36 citations , January 2012 in “International Journal of Trichology”

Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

research Premature aging syndromes: From patients to mechanism

29 citations , October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

research Animals in Dermatology

March 2024 in “Indian Journal of Dermatology/Indian journal of dermatology”

Using animal names for skin conditions helps with learning and memory.

research Myotonic Dystrophy—A Progeroid Disease?

41 citations , July 2018 in “Frontiers in Neurology”

Myotonic dystrophy may be classified as a segmental progeroid disorder.

research Extracellular vesicles in age-related diseases: disease pathogenesis, intervention, and biomarker

9 citations , May 2025 in “Stem Cell Research & Therapy”

Extracellular vesicles can both worsen and help treat age-related diseases and are useful for early diagnosis.

research Diseases of Periocular Hair

7 citations , July 2011 in “Survey of Ophthalmology”

The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.

research The Genetics of Acne

July 2025 in “Annals of Human Genetics”

Genetics play a major role in acne, but environmental factors and epigenetics also contribute.

research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells

51 citations , October 2019 in “Cells”

Baricitinib reduces inflammation and improves cell health in premature aging cells.

research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

April 2017 in “Journal of Investigative Dermatology”

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

research Acromegaloid Facial Appearance: Case Report and Literature Review

6 citations , January 2013 in “Case reports in endocrinology”

The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.

research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia

2 citations , June 2019 in “The Journal of Dermatology”

Two cases showed skin abnormalities without bone or neural defects.

research Novel missense mutation in the EDA gene in a family affected by oligodontia

12 citations , January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie”

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology

research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

9 citations , April 2020 in “Journal of dermatology”

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

research Phenotypic variability associated withWNT10Anonsense mutations

28 citations , February 2010 in “British journal of dermatology/British journal of dermatology, Supplement”

WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.

research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India

1 citations , January 2018 in “Indian dermatology online journal”

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

7 citations , May 2019 in “European Journal of Human Genetics”

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

research Atrichia with papular lesions

8 citations , January 2011 in “International journal of trichology”

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.