Marghoob Phillyderm – 19 Jan 2018
Click Here to see the pdf file of Marghoob Phillyderm – 19 Jan 2018
Twenty-nail dystrophy – Drexel – May 16, 2016
Presented by: Jaryd Freedman, MD, Catherine Warner, MD, and Mark Abdelmalek, MD Drexel University College of Medicine May 16, 2016 Twenty-nail dystrophy is a rare condition in which all nails simultaneously become dystrophic. Most commonly the nail plate will show trachyonychia; however, other dystrophic features may be present. The condition is usually a manifestation of […]
Brooke-Spiegler syndrome – Drexel – May 16, 2016
Presented by: John Durkin, MD and Herbert Allen, MD Drexel University College of Medicine May 16, 2016 Brooke-Spiegler syndrome (BSS) is a rare, autosomal dominant hereditary disease with variable penetration that predisposes patients to tumors derived from various skin appendages. The associated tumors include spiradenomas, trichoepitheliomas, and cylindromas. The onset is in early adulthood, with females […]
Neurofibromatosis – Drexel – May 16, 2016
Presented by: Christine Shaver, MD and Herbert Allen, MD Drexel University College of Medicine May 16, 2016 Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen’s disease, is an autosomal dominant inherited neurocutaneous disorder. The clinical manifestations of NF-1 result from a mutation in the NF1 gene located on chromosome 17q11.2, and encodes the 327 […]
Autosomal Recessive Congenital Ichthyosis – Drexel – May 16, 2016
Presented by: Catherine Warner, MD, Lauren Ogrich, MD, and Herbert Allen, MD Drexel University College of Medicine May 16, 2016 The term autosomal recessive congenital ichthyosis (ARCI) is used to refer to harlequin ichthyosis (HI) and disorders of the lamellar ichthyosis/congenital ichthyosiform erythroderma (LI/CIE) phenotypic spectrum. Mutations in nine genes have been described in ARCI […]
Birt-Hogg-Dubé syndrome – Drexel – May 16, 2016
Presented by: Catherine Warner, MD, Jaryd Freedman, MD, and Mark Abdelmalek, MD Drexel University College of Medicine May 16, 2016 Birt-Hogg Dubé Syndrome (BHDS) presents with a triad of multiple fibrofolliculomas, trichodiscomas and achrochordons associated with pulmonary cysts, pneumothoraces and renal tumors. The lesions usually appear after the second decade of life predominantly on the […]
Gorlin syndrome – Drexel – May 16, 2016
Presented by: Christine Shaver, MD and Herbert Allen, MD. Drexel University College of Medicine May 16, 2016 Gorlin syndrome, also known as Basal Cell Nevus syndrome, is a rare genodermatosis with an incidence of 1 in 19,000 to 256,000 people. The condition results from a mutation in the PTCH1 gene found on chromosome nine, and […]
Muir-Torre syndrome (MTS) in a solid organ transplant patient – Drexel – May 16, 2016
Presented by: Lauren Ogrich, MD and Mark Abdelmalek, MD Drexel University College of Medicine May 16, 2016 Muir-Torre syndrome is a disorder characterized by at least one sebaceous tumor and visceral malignancy. It is a phenotypic variant of hereditary nonpolyposis colorectal carcinoma syndrome (HPNCC) or Lynch syndrome (LS). Cutaneous neoplasms associated with MTS include sebaceous […]
Alopecia universalis – Drexel – May 16, 2016
Presented by: Christine Shaver, MD and Herbert Allen, MD. Drexel University College of Medicine May 16, 2016 Alopecia areata is a complex genetic, T-cell–mediated autoimmune condition that is most likely to occur in genetically predisposed individuals. The infiltrate consists mostly of T-helper cells and, to a lesser extent, T-suppressor cells. While the process appears to […]
Diffuse congenital alopecia areata in the setting of situs inversus and primary ciliary dyskinesia – Drexel – May 16, 2016
Presented by: Jeanyoung Kim, MD and Carrie Ann Cusack, MD Drexel University College of Medicine May 16, 2016 Situs inversus is a congenital condition in which the internal organs are reversed or mirrored from their normal anatomical locations. It is present in 0.1% of the population and is often undiagnosed due to its asymptomatic nature. […]