15. Genetics and Genodermatoses

Galli-Galli disease: Case report

Francisca Regin Oliveira Carneiro Carneiro, Alianne Violet Alves Chichester Chichester, Amanda Teixeira Labelle Castanheira Castanheira, Ana Luisa Mendes Dos Reis Reis, Adriana Kamilly Leitão Pitman Machado Machado, Lorena De Britto Pereira Cruz Cruz, Miguel Saraty De Oliveira Oliveira

Hypohydrotic Ectodermal Dysplasia - Case report

Francisca Regina Oliveira Carneiro, Samuel Soares Ribeiro, Carlos Victor Silva Nascimento, Lucas Solano Araújo Da Silva, Lais Carneiro Dos Santos

Sixteen novel COL7A1 mutations identified in patients with dystrophic epidermolysis bullosa from China: a Retrospective Study from a Single Center in Shanghai, China (2013-2018)

Doulimin Dou, Ying Ye Ye, Songwei Song, Zhaopiaoping Zhao, Wangliuhui Wang, Huxiaoying Hu

Multiple familial trichoepithelioma: a rare genodermatoses

Radassa De Avelar Nogueira Herculano Herculano, Marília Moura Machado Machado, Thais Cristina Corrêa Alves Alves, Vinicius Costa Mota Mota, Camila Mourão Bathaus Coutinho Coutinho, Gabriela Del Rosario Rojas Nascimento Nascimento, Josiane Losque Augustini Augustini, Daniela Salles Menin Menin

Missing island of hair and paws – A rare syndrome

Bramhini Bhargavi K, Venkata Krishna A, Vijay Sekhar P

A CROSS SECTIONAL DESCRIPTIVE STUDY OF NEONATAL SKIN FINDINGS IN A TERTIARY CARE CENTRE

Yogesh Kalyanpad

Ultrastructural investigations in an autosomal recessively inherited case of dyschromatosis universalis hereditaria- A Case Report

Shrea Kapoor, Aayush Gupta

Scope of ultrastructural studies in understanding lesions of Neurofibromatosis using electron microscopy

Shrea Kapoor, Sonia Sabhandasani, Aayush Gupta

A Rare Cause of Recurrent Leg Ulcers, Identified by a Novel Mutation in PEPD gene: Prolidase Deficiency

Esra Kiratli Nalbant, Nermin Karaosmanoglu, Omer Kutlu, Serdar Ceylaner, Hatice Meral Eksioglu

Pseudoxanthoma elasticum- impact on working conditions and quality of life

Caterina Kostic, Johannes Birtel Birtel, Gerhard Bort Bort, Markus Hantschke Hantschke, Christiane Szliska Szliska, Doris Hendig Hendig, Phillip Herrmann Herrmann, Frank G. Holz Holz, Martin Gliem Gliem, Peter Charbel Issa Issa, Max Jonathan Stumpf Stumpf, Christian Alexander Schaefer Schaefer, Robert Finger Finger

WHITE TODAY, WHITE TOMORROW, WHITE FOREVER: AN UNRELATED PARTIAL ALBINISM

Sujana Lakkireddy Gari

Correlations between Psoriasis and Noonan Syndrome

Andreia Mateus Moreira, Eliana Daiha

Type I CRISPR-Cas3 induces broard, distal and unidirectional genome editing in human cells

Hiroyuki Morisaka, Kazuto Yoshimi, Yuya Okuzaki, Peter Gee, Yayoi Kunihiro, Ekasit Sonpho, Huaigeng Xu, Noriko Sasakawa, Yuki Naito, Shinichiro Nakada, Takashi Yamamoto, Shigetoshi Sano, Akitsu Hotta, Junji Takeda, Tomoji Mashimo

A case of Muir-Torre syndrome: the emphasis on the role of immunohistochemical study

Eunjung Park, Gayun Baek, Taehan Koo, Mingyul Jo, Jiho Park, Min-soo Kim, Mihn-sook Jue

Epidermolysis bullosa simplex with mottled pigmentation: report of a sporadic case

Carolina Fernandes Pereira, Flávia Regina Ferreira, Juliana Carvalho Moretto, Mariana Patriota Naville

KFSD - Keratosis Follicularis Spinulosa Decalvans

Isha Singh

SITOSTEROLEMIA: A diagnosis of exclusion?

Isha Singh

Case Report- Siblings with accelerated ageing: probably the first of its kind progeroid syndrome.

Sakshi Sitaniya, Aayush Gupta

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12duplication and autosomal recessive non-syndromic ichthyosis

Sakshi Sitaniya, Aayush Gupta, Shrea Kapoor