Experts and Doctors on skin abnormalities in United States


Locale: United States
Topic: skin abnormalities

Top Publications

  1. Puvabanditsin S, Garrow E, Samransamraujkit R, Lopez L, Lambert W. Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia. Pediatr Dermatol. 1997;14:359-62 pubmed
    ..Blistering of the skin developed after birth. Epidermolysis bullosa simplex was confirmed by electron microscopy of a skin biopsy specimen. We describe this patient, who had three unusual manifestations of epidermolysis bullosa. ..
  2. Paul T, Laohakunakorn P, Long B, Saul J. Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation. J Cardiovasc Electrophysiol. 2002;13:612-5 pubmed
    ..This report demonstrates the usefulness and safety of radiofrequency catheter ablation in an infant with polymorphic VT who was unresponsive to medical therapy. ..
  3. Rusinol A, Sinensky M. Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors. J Cell Sci. 2006;119:3265-72 pubmed
    ..However, there are concerns about their use for this purpose given the potential for alternative prenylation pathways. ..
  4. Siegel D, McKenzie J, Frieden I, Rauen K. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol. 2011;164:521-9 pubmed publisher
    ..Multiple café-au-lait macules and papillomas were not identified in this CFC cohort, helping to distinguish CFC from other RASopathies such as neurofibromatosis type 1 and Costello syndrome. ..
  5. Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A. J Cell Sci. 2006;119:4644-9 pubmed
    ..Since DNA damage accumulation is an important contributor to the symptoms of HGPS, our results call into question the possibility of treatment of HGPS with FTIs alone. ..
  6. Jacques S, Ramella Roman J, Lee K. Imaging skin pathology with polarized light. J Biomed Opt. 2002;7:329-40 pubmed
    ..This result suggests that the point spread function in skin for cross-talk between Pol pixels has a half-width-half-max of about 390 microm. ..
  7. Puvabanditsin S, Garrow E, Kim D, Tirakitsoontorn P, Luan J. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. J Am Acad Dermatol. 2001;44:330-5 pubmed
    ..These cases emphasize this unusual combination of defects and limitations of electron microscopy. ..
  8. Srivastava A, Durmowicz M, Hartung A, Hudson J, Ouzts L, Donovan D, et al. Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum Mol Genet. 2001;10:2973-81 pubmed
  9. Gripp K, Lin A, Nicholson L, Allen W, Cramer A, Jones K, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A. 2007;143A:1472-80 pubmed
    ..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...

More Information


  1. Quezada E, Gripp K. Costello syndrome and related disorders. Curr Opin Pediatr. 2007;19:636-44 pubmed
    ..Molecular testing is available and a clinical diagnosis should be reconsidered if it is inconsistent with the molecular result. ..
  2. Sampath H, Flowers M, Liu X, Paton C, Sullivan R, Chu K, et al. Skin-specific deletion of stearoyl-CoA desaturase-1 alters skin lipid composition and protects mice from high fat diet-induced obesity. J Biol Chem. 2009;284:19961-73 pubmed publisher
    ..This results in up-regulation of thermogenic processes for temperature maintenance at the expense of fuel economy, illustrating cross-talk between the skin and peripheral tissues in maintaining energy homeostasis. ..
  3. Choi J, Sutor S, Lindquist L, Evans G, Madden B, Bergen H, et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genet. 2009;5:e1000750 pubmed publisher
    ..These data provide significant new mechanistic insight into the pathophysiology of OI and reveal how the members of the P3H1/CRTAP/CypB complex interact to direct proper formation of collagen and bone. ..
  4. Harrison S, Davis B, Nishimura M, Albers K, Jones M, Phillips H. Rescue of NGF-deficient mice I: transgenic expression of NGF in skin rescues mice lacking endogenous NGF. Brain Res Mol Brain Res. 2004;122:116-25 pubmed
    ..Thus, the most vital functions of NGF are not dependent on faithful recapitulation of the normal spatiotemporal pattern of gene expression. ..
  5. Mattsson N, Duzevik E, Pelsue S. Expansion of CD22lo B cells in the spleen of autoimmune-prone flaky skin mice. Cell Immunol. 2005;234:124-32 pubmed
    ..We contend that decreased activation thresholds among CD22lo B-lymphocytes contributes to the expansion of immature and B-1 B cell populations and to the development of autoimmune pathology in fsn/fsn mice. ..
  6. Gripp K, Lin A, Stabley D, Nicholson L, Scott C, Doyle D, et al. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A. 2006;140:1-7 pubmed
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete. ..
  7. Threadgill D, Dlugosz A, Hansen L, Tennenbaum T, Lichti U, Yee D, et al. Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. Science. 1995;269:230-4 pubmed
    ..The multiple abnormalities associated with EGFR deficiency indicate that the receptor is involved in a wide range of cellular activities. ..
  8. Herron B, Bryda E, Heverly S, Collins D, Flaherty L. Scraggly, a new hair loss mutation on mouse chromosome 19. Mamm Genome. 1999;10:864-9 pubmed
    ..Allelism tests between sgl and asebia (ab), another hair loss mutation on mouse Chr 19, showed that these genes were separate and distinct. ..
  9. Barisic Dujmovic T, Boban I, Adams D, Clark S. Marfan-like skeletal phenotype in the tight skin (Tsk) mouse. Calcif Tissue Int. 2007;81:305-15 pubmed
    ..These initial experiments demonstrated a significant role of the fibrillin 1 protein in the extracellular matrix of bone cells. ..
  10. Hobson G, Gibson C, Aragon M, Yuan Z, Davis Williams A, Banser L, et al. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). Am J Med Genet A. 2009;149A:1698-705 pubmed publisher
    ..More than 50 additional genes were monosomic in this patient...
  11. Liu X, Dangel A, Kelley R, Zhao W, Denny P, Botcherby M, et al. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet. 1999;22:182-7 pubmed
    ..They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism. ..
  12. Sengle G, Tsutsui K, Keene D, Tufa S, Carlson E, Charbonneau N, et al. Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012;8:e1002425 pubmed publisher
    ..We conclude that local tissue-specific microenvironments, affected in WMS, are maintained by a fibrillin-1 microfibril scaffold, modulated by ADAMTSLIKE proteins in concert with ADAMTS enzymes. ..
  13. Park A, Phan N, Massoudi D, Liu Z, Kernien J, Adams S, et al. Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections. Am J Pathol. 2017;187:2300-2311 pubmed publisher