15. Genetics and Genodermatoses

PAPILLON-LEFÈVRE SYNDROME: A NEW OBSERVATION

Sofia Aboudar, Ouafa Hocar, Said Amal

An elephantiasis neuromatosa in a context of neurofibromatosis type I

A Achehboune, S Elloudi, Z Douhi, H Bay Bay, Fz Mernissi

Treatment of acneiform lesions of the neck in pseudoxanthoma elasticum

M Achraf, S Oumakhir, T Hanafi, N Hjira, M Boui

Trichothiodystrophy among Egyptians

Zaghloul Adel Botros

Neurofibromatosis type 1 : Emergence of new type of tumors

Khouna Afaf, Sof Kaouthar, Zizi Nada, Dikhaye Siham

LET’S REPURPOSE DRUGS WITH OMICS LIKE TECHNOLOGY!

Luna Aksoy

Skin cancer prevention in xeroderma pigmentosum

Elloumi Amel, Zghal Mohamed, Jones Meriem, Triki Salma

RETICULATE ACROPIGMENTATION OF KITAMURA : A RARE CASE REPORT IN A FAMILY WITH 19 CASES OF DOWLING DEGOS DISEASE

Sneha Arora

A Case Report of Familial Hypercholesterolemia Type 2a

Lale Ates

A SUPERNUMERARY NIPPLE (ABOUT 3 OBSERVATIONS)

Y Barbach, A Dah Cherif, M Chaouche, S Elloudi, H Baybay, F Mernissi

An unusual cause of perineal intertrigo!!!

K Belhareth, M Korbi, M Lahouel, Y Soua, H Belhajali, M Youssef, J Zili

Porokeratosis in children: a pathology to remember

S Ben Moussa, M Abid, S Berrada, F Z Hazmiri, H Raiss, S Amal, O Hocar

The H syndrome: 6 new cases from the south of Tunisia

M Ben Rejeb, E Bahloul, K Sellami, H Mesrati, H Jaouadi, S Boudaya, M Mseddi, A Masmoudi, S Abdelhak, H Turki

Comedonic Nevus Syndrome: Case report.

Tatiane Benini, Elizabeth Leocadia, Maria Luiza Mussi, Luciana Couto, Isadora Leocadia, Denise Steiner, Rebecca Silveira

Sisters with No Pain, No Tears: A report of a New Variant of HSAN (Type IX) caused by a novel SCN11A Mutation

K Bhalala, Shital Poojary

UNILATERAL SEGMENTAL NEUROFIBROMATOSIS – A RARE PRESENTATION OF A COMMON GENODERMATOSES.

S Bhatia, S Prabhu

Two Cases of Xeroderma Pigmentosum Involving Siblings

Gulnara Bissenova

Variable response to Naltrexone in patients with therapy refractory Darier disease

D Boehmer, K Eyerich, U Darsow, A Zink, T Biedermann

Acrokeratoelastoidosis: Report of a familial case with additional Blaschko-linear hypopigmented lesions

M Boente, M Fiandino, N Primc, R Asial

Phylloid Hypomelanotic Mosaicism: Report of 6 New Cases

María Del Carmen Boente, María José Fiandrino, Norma Beatriz Primc, Daniela Montanari

Role of nectin-4 during skin development and transcriptional regulation.

E Botti, F Moretti, S Cordisco, A Massaro, R Monetta, E Dellambra, P Fortugno, L Bianchi, F Brancati

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA: CASE REPORT

A Burlacu, S Enli, C Bassorgun, E Alpsoy

Type I leucocyte adhesion deficiency (LAD I): a familiar case.

Carmen Cantisani, Ahmad Faiq Naqeshbandi, Mohamad Goldust, Salvatore Lampitelli, Franca Cantoresi, Ezeldeen Alsorori

Evidence of common and differential genetic biomarkers for Ps and PsA

V. Caputo, C. Strafella, A. Mazzotta, G. Novelli, L. Bianchi, E. Campione, C. Lanna, R. Cascella, E. Giardina

Dercum’s disease: a rare and underdiagnosed disease

Mol Carapeba, Jd Molina, Ga Nai, Tcpc Andrade, Mam Morgado De Abreu

A Case of Tuberous Sclerosis Complex with Extensive Multiple Organ Involvement

L Caro-chang, E Cubillan

Circumscribed nodules in the trunk: think about segmental neurofibromatosis

Amal Chamli, Anissa Zaouak, Houda Hammami, Samy Fenniche

Novel Surgical Approach for Management of Cutaneous Neurofibroma in Neurofibromatosis Type 1

B Chamseddin, L Hernandez, D Solorzano, J Vega, L Le

Autosomal Recessive Cutis Laxa Type 1 – a Case Report

Shruti Chavan

Chediak Higashi Syndrome - Case report

Shruti Chavan

Dowling-Degos Disease- A rare reticulate pigmentary disorder

Vijaya Lakshmi Chelikani, Venkata Krishna Ananthula

Exuberant granulation tissue: boon or bane? - A rare case of Laryngo-Onycho-Cutaneous syndrome.

Vijaya Lakshmi Chelikani, Padmaja Pinjala

REED SYNDROME: A CASE REPORT AND DERMATOSCOPIC FEATURES

C Chello, F Magri, G Caro, D Giordano, F Persechino, G De Marco, A Tammaro, S Persechino

Novel Compound Heterozygous mutations on Exon 9 and Exon 10 of LDLR gene in Two Chinese Sisters Result in Familial Hypercholesterolemia with severe xanthoma and 16 years follow-up

Xj Chen, Y Lin, Zl Yang

Solitary Mastocytoma in Children-Practical Clues

A. Chiriac, V. Sturza, M. Betiu

EHLERS-DANLOS SYNDROME, A SINGLE CENTRE EXPERIENCE

O Corral-magaña, J Boix-vilanova, J Rossell, A Giacaman, Lj Del Pozo, A Martín-santiago

DIAGNOSIS AND TREATMENT OF GORLIN-GOLTZ SYNDROME : ABOUT 12 CASES.

M Daldoul, S Ayachi, M Daldoul, S Tritar, R Moatemri, H Khochtali

Gorlin-Goltz Syndrome: Odontogenic keratocysts revealing an often missed diagnosis

M Daldoul, A Ayadi, M Daldoul, M Ben Rejeb, H Khochtali

WARTHON’S JELLY MESENCHIMAL STEM CELLS TREATMENT FOR KINDLER’S SYNDROME

Willa Damayanti, Ance Imelda Betaubun, Ardelia Dyah Ayu, Suci Widhiati, Indah Julianto

Recessive dystrophic epidermolysis bullosa and basal cell carcinoma: a case report

R De Oliveira Boabaid, N Conceição Fernandes

INHERITED EPIDERMOLYSIS BULLOSA: DESCRIPTION OF CLINICAL AND SUBCLINICAL MORPHOLOGICAL FEATURES WITH OPTICAL COHERENCE TOMOGRAPHY

B De Pace, C Fiorentini, S Ciardo, J Chester, S Kaleci, T Veltri, M De Luca, G Pellacani

Recalcitrant Hailey-Hailey disease treated successfully with hydrosurgical debridement

T Deboli, J Marchetti Cautela, P Broganelli, P Dapavo, M Fraccalvieri

Correlation Between Phenotype and Genetic Mutation in Various Type of Epidermolysis Bullosa Patients In Indonesia

Inne Arline Diana, Srie Prihianti Gondokaryono, Mark Koh Jean Aan, Tan Ene Choo, Reiva Farah Dwiyana, R.m Rendy Ariezal Effendi, July Iriani Rahardja, Yuri Yogya

Monilethrix Treated With 5% Topical Minoxidil: A Case Report And A Review Of Literature

E Dino, Ml Abad-venida, A Thaebtharm, M Alegre, R Milante

Tyrosinemia Type II : three cases report

Samia Djoudi, Farid Ait Belkacem, Dalila Bouharati

REPORT OF TWO CASES OF XERODERMA PIGMENTOSUM IN MAURITIUS: PHOTOPROTECTION A MUST

A Doarika, S Caulloo Permala, D Fook Cheong, S Fakim

XRCC1 rs1799782 Arg194Trp and rs25487 Arg399Gln polymorphisms influence on dermatomyositis and systemic lupus erythematosus in Bulgarian patients

Lyubomir A. Dourmishev, Maria Hristova, Rumyana Dodova, Joana Pozharashka, Anton Vinkov, Radka Kaneva, Zornitsa Kamenarska

Atypical presentation of Darier disease

F El Sayed, N Hajjar, A Fakih

Idiopatic localized anhidrosis: a rare syndrome

Khadija Elboukhari, Hanane Baybay, Fatima Zahra Mernissi

Crystal structures of keratin 1/keratin 10 tetrameric complexes demonstrate that the K1-S233L mutation causes epidermolytic palmoplantar keratoderma through aberrant hydrophobic aggregation of keratin

S Eldirany, I Lomakin, A Hinbest, M Ho, C Bunick

PATTERN OF CUTANEOUS MALIGNANCIES AMONG INDIVIDUALS WITH OCULOCUTANEOUS ALBINISM IN ANAMBRA STATE NIGERIA-A PARADIGM SHIFT?

N Enechukwu, G Ogun, O Ezejiofor, T Chukwuanukwu, A George, A Ogunbiyi

GENETIC PRELIMINARY EXAMINATION: ADENOSINE TRIPHOSPHATE-BINDING CASSETTE A12 GENE EXON 34 AND 44 
IN A CASE OF HARLEQUIN ICHTHYOSIS AND HER BOTH PARENTS

Ed Essary, Ia Diana, Rmra Effendi, Am Maskoen, Rf Dwiyana

HLA alleles in Brazilian patients with Melkersson-Rosenthal syndrome

Camila Fátima Biancardi Gavioli, Silvia Vanessa Lourenço, Marcello Menta Simonsen Nico

FABRY DISEASE: CASE REPORT

S Ferreira Santos Da Cruz, M Ferreira Santos Da Cruz, J Nicolau Da Costa Chady, B Amaral Da Costa Savino, L Carneiro Dos Santos, Y M Rocha Calderaro, B Gabriel Mafra, E Gabriel Mafra, F R Oliveira Carneiro

Kindler syndrome

M Ferreiro, M Machado, I Gómez

Rothmund Thomson syndrome with RECQL4 mutation presenting with hypercortisolemia

N Fetoui Ghariani, N Ghariani, Y Hasni, M Ben Rekaya, L Boussofara, M Chaieb, S Abdelhak, M Ben Kahla, S Mokni, C Belajouza, M Denguezli, R Nouira

Immune cell infiltration in Cutaneous Squamous Cell carcinomas in Recessive Dystrophic Epidermolysis Bullosa: comparison with non-RDEB cutaneous Squamous Cell carcinomas

Angela Filoni, Gerolamo Cicco, Leonardo Resta, Lucia Lospalluti, Giuseppina Annichiarico, Domenico Bonamonte

Antiskin autoantibodies in two newborns with inherited epidermolysis bullosa: may be not only an epiphenomenon?

Angela Filoni, Marilina Tampoia, Nicola Laforgia, Domenico Bonamonte

Clinical Impact Score, A Novel and Clinically Significant Measure of Journal Influence Derived from Commonly Used Medical Reference Citations

Aleksandra G. Florek, Claudia M. Ricotti, Cory A. Dunnick, Jeremy Hugh, Robert P. Dellavalle

PAPA syndrome: sterile pyogenic arthritis, pyoderma gangrenosum and acne

Ag Fuentes-nava, Da Apam-garduño, L Fierro-arias, I Arellano-mendoza, J Nava-valdéz, Jc Zenteno, Mc Jiménez-martínez, La Salazar

Pachyonychia congenita - can a specific phenotype be a clue to a genetic defect?

Mirjana Gajic-veljic, Jovan Lalosevic, Jelena Stojkovic-filipovic, Martina Bosic, Milos Nikolic

Erythrokeratodermia variabilis: a report of a tunisian case

S Gara, R Bribech, T Bacha, A Toumi, M Jones, F Zeglaoui

Epidermolytic palmoplantar keratoderma (Vörner type)

Fernando Gato, Olga Lucia Forero, Esteban Maronna

Differential Diagnosis of Congenital epidermolysis bullosa

Margarita Gekht

Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation

Khaled Gharib

Schimmelpenning-Feuerstein- Mims Syndrome A rare entity associated with rarer associations

Priyanka Ghuge, Uday Khopkar

Congenital neutropenia and cutaneous manifestations: what to think about?

A Giacaman, J.a Salinas Sanz, S Navarro Noguera, C Díaz De Heredia, A Martín-santiago

Dyskeratosis congenita: a multidisciplinary approach.

A Giacaman, J.a Salinas Sanz, S Navarro Noguera, R Perona Abellón, O Corral-magaña, A Martín-santiago

CLUSTERED MELANOCYTIC NEVI: AN UNCOMMON SKIN MOSAICISM

Lorenzo Gualandri, Roberto Betti, Laura Moneghini, Amilcare Cerri

DARIER DISEASE WITH ESOPHAGEAL INVOLVEMENT: A RARE LOCALIZATION WITH NEOPLASTIC POTENTIAL

Lorenzo Gualandri, Federica Derlino, Laura Moneghini, Amilcare Cerri

THE INFLUENCE OF MC1R IN DIFFERENT SKIN COMPARTMENTS AS UNVEILED BY NON-INVASIVE SKIN IMAGING TECHNIQUES

S Guida, S Ciardo, B De Pace, N De Carvalho, F Peccerillo, M Manfredini, G Guida, G Pellacani

A case of Generalized Pustular Psoriasis with a Deficiency of IL-36RN (DITRA)

Rui Han, Yingjun Wang, Hao Cheng

Neurofibromatosis Type 1 and Elephantiasis Neuromatosa: a rare entity

B Ho, A Childerhouse, L Alarcon, K Gordon, P Mortimer, S Mansour

A better method to cultivate human skin-derived precursors

W Hua, L Li

LEG ULCER AND NEUROPATHY OF CHARCOT MARIE TOOTH

S Idoudi, S Boumaiza, S Saad, H Belhadjali, M Youssef, J Zili

Insulin-Like Gene Polymorphism in Acne & its Relationship with Acne Severity & Serum IGF Levels

U Iftikhar, N Choudhry

A rare case of familiar palmoplantar keratoderma and its differential diagnosis

Kinga Jakab, B. Barta, K. Blága, T. Barna, G. Nagy

Clinical Presentations of Darier Disease

Sm Joy Way Bueno, Pc Luna, Ai Lösch, Tdj Torres Avila, Ll Tirelli, F Barrera, A Label, M Larralde

An Analysis of Osteoporosis and Osteopenia in Epidermolysis Bullosa

M Kang, J Chen, M Radjenovic, A Yang, G Feng, D Murrell

Gynecologic and Obstetric Implications of Darier’s disease

Naveen Kumar Kansal

Mother and Son with Turner's and Noonan's Syndrome

Jaskanwal Kaur, Sangita Jain

A case of linea alba hernia with stomach, omentum, and superior mesenteric artery herniation

T Kawai, H Fujiwara, K Tomii, Y Satou, R Abe

Cutaneous Bronchogenic Cyst Mimicking Aplasia Cutis Congenita: A Case Report

S Kc, D Karn

Cutis verticis gyrata: a new case

F Kettani, F Hali, K Baline, S Chiheb

XERODERMA PIGMENTOSUM IN NORTHWESTERN YEMEN: A CLINICOEPIDEMIOLOGIC STUDY

Mishri Lal Khatri

Cockayne syndrome: About a family of four brothers

I Khrichfa, H Skalli, F Hali, S Chiheb

Pyruvate protects against cellular senescence through the control of mitochondrial and lysosomal function in dermal fibroblasts

Jeong Yeon Kim, In Sup Kil

MYH9 and Steatocystoma multiplex suppurativa: A newly identified mutation in 2 patients and their family members

N Kirsten, K Kloth, C Wilhelm, M Augustin

Genome-wide association study in Korean females identifies genetic variants associated with skin barrier

Eun Bi Ko, Su Jin Kim, Myeong Jin Koh, Ji Hye Kim, In-young Kim, Bo-reum Park, Kyung-won Hong, Sung Il Park, Hae Kwang Lee, Byung-fhy Suh, Hye One Kim

Silvery Hair - a simple diagnostic clue to a rare case of Elejalde syndrome

S Kondaveeti, S Teki

A Case of a 56-year old Male with Hailey-Hailey Disease: A Problem-Based Approach

K Kua, M Lavadia, E Prieto

Epidemiology of inherited epidermolysis bullosa in the Russian Federation in 2014-2016

Alexey Kubanov, Arfenya Karamova, Vadim Chikin, Elena Bogdanova, Ekaterina Monchakovskaya

A case report on a rare variant of erythrokeratoderma

Vidya Kuntoji

CHRIST SIEMENS TOURAINE SYNDROME-A RARE CASE PRESENTATION

Sujana Lakkireddygari

Successful treatment of Hailey-Hailey disease with Alitretinoin

Jong Suk Lee, Jeong Yeon Hong, Sung Yul Lee, Young Lip Park, Kyu Uang Whang, Jung Eun Kim

Comparison of genetic mutations between squamous cell carcinoma and actinic keratosis on the right cheek in a same patient using whole genome sequencing

Young Bok Lee, Min Ji Kang, Dong Soo Yu

Homozygous TGM1 mutation in 6 unrelated patients with lamellar ichthyosis from Malaysia

Kin Fon Leong, Guek Khim Glenda Oh, Dwi Pramono Zacharias Aloysius, Wooi Chiang Tan, Uttam Surana

H Syndrome – The first confirmed case from Malaysia

Kin Fon Leong, Min Moon Tang, Dyoi E Low, Uttam Surana, Dwi Pramano Zacharias Aloysius, Jia Yi Lee

Characterization and biological safety assessment of trans-cultured skin-derived precursors (tSKPs) from human skin

Li Li, Ru Dai, Hailun He

Integrated transcriptome analysis of microRNA and mRNA in mouse skin derived precursors (SKPs) and SKP derived fibroblast (SFBs) by RNASeq

Li Li, Rongying Zhou, Anqi Li

A case of acquired penetrating dermatosis

Ling Li

Comparison of phenotypes and transcriptomes of mouse skin-derived precursors and dermal mesenchymal stem cells

Yiming Li, Lidan Xiong, Jie Tang, Li Li

The study of the relationship between mSKPs growth and plating density

Yiming Li, Lidan Xiong, Jie Tang, Li Li

Acrokeratosis Verruciformis of Hopf - A Case Report

Charmaine Lim, Hui Yi Chia, Madeline Ho

EXUBERANT CASE OF PSEUDOXANTHOMA ELASTICUM

Monallisa Lima Andrade, Paula Santana Alves Carneiro, Duanne Silva Freitas, Felipe Batista Santos, Bruno De Santana Silva, Fedro Menezes Portugal, Pedro Dantas Oliveira

Mutation analysis of TSC1 and TSC2 gene in patients with Tuberous Sclerosis Complex

Linli Liu, Zhengzhong Zhang, Chunshui Yu

Blau patient-derived iPS cells reveal gain-of-function mutation of NOD2 selectively impairs its ligand specific immune responses

Thi My Nhung Ly, Naotomo Kambe, Megumu K Saito, Hiroyuki Okamoto

CLINICAL CASE OF ECTODERMAL GENODERMATOSIS - THE BLOCH-SULZBERGER SYNDROME

Galyna Makurina, Svetlana Nedelska, Liliya Cherneda

Ainhum Disease: A Case Report

Kifayet Mammadli, Burçin Cansu Bozca, Güzide Ayse Ocak, Mustafa Urgüden, Erkan Alpsoy

We are pulling this abstract due to revision that will not be finished by Oct 15. Thank you

Patricsia Manalu

Genetic predictors of atrophic acne scars.

Natalia Manturova, Larisa Kruglova, Anna Stenko, Evgeniya Ikonnikova

Genetic predictors of hyperpigmentation

Natalia Manturova, Larisa Kruglova, Anna Stenko, Evgeniya Ikonnikova

Stratification of the predictors of infliximab inefficiency.

Natalia Manturova, Larisa Kruglova, Anna Stenko, Evgeniya Ikonnikova

MACROPHAGE ACTIVATION SYNDROME IN DERMATOLOGY

Safae Maouni, Asmae Sqalli, Karima Senouci, Badredine Hassam

Lipoid proteinosis: A Case report in a Filipino male.

M R Maralit, A Villanueva, E G Vista, J Dayrit

Further evidence of the role of HLA-DRB1*04:11 in the susceptibility to Heck’s disease in Mayans infected by HPV 13

L Mena-hernández, P Fernandez, M González-losa, J Cerón, A Mosqueda-taylor, N Pérez-hernández, J Rodríguez-pérez, M Soler, G Vargas-alarcón, E Yunis, L Lammoglia-ordiales, J Granados

Use of Fractional CO2 Laser in a 32-year old Filipino Female with Darier's Disease

J Mercado-garcia, C Iniego, V Pelino, E Prieto

Bourneville-Pringle disease: the misleading acne!!

Khalidi Meryem, El Amraoui Mohammed, Hjira Naoufal, Boui Mohammed

Undiagnosed photogenodermatsis

Olfa Messaoud, Mariem Ben Rekaya, Chokri Naouali, Sahar Elouej, Majdi Nagar, Mourad Mokni, Mohamed Zghal, Sonia Abdelhak

A multi-omics approach to study the effects of chronic exposure of pollution on skin reveals a complex interplay between host, pollutants and microbes

Namita Misra, Nasrine Bourokba, Sakina Mezzache, Eric Arbey, Cecile Clavaud, Luc Aguilar, Nukhet Cavusoglu

The five-year-follow-up of three Japanese patients with incomplete erythropoietic protoporphyria

M Mizawa, T Shimizu

The pattern of Genodermatoses In Asyut, Egypt

Essamelden Mohamed, Khaled Tawfika, Medhat Saleh

A Semi-Quantitative Biophysical Model of the Interactions between Gel Phase Lamellar Lipids and Compromised Stratum Corneum

David Moore, Michael Thompson

Characterization of Barrier Mimetic Lipid Model Formulations

David Moore, Michael Thompson

When the Sun causes the problems or double case of Xeroderma pigmentosum in a family

Andrey Mun

Two different variants of syringomata in two successive generations

R. Nagar

Current and Emerging Medical Therapies for Cutaneous Manifestations of Tuberous Sclerosis Complex

Q Nguyen, A Hebert

Hereditary punctate palmoplantar keratoderma type IA - mutation in the AAGAB gene

Michaela Nováková, Karolína Svobodová, Veronika Krížková, Jana Hercogová

A case of Olmsted syndrome with painful palmoplantar keratoderma and bone resorptions of distal phalanx

Yuko Okubo, Daisuke Utsumi, Sayaka Yamaguchi, Yu-ichi Yamamoto, Kenzo Takahashi

Dermatophytic disease with deficit in CARD9: A new case with a brain impairment.

Boudghene Stambouli Omar

Dermatophytic Disease: Immunogenic Genetic Disease

Boudghene Stambouli Omar

Hereditary Ichthyosis and Reached Buccal

Boudghene Stambouli Omar, Dib Lachachi Amina

HAILEY HAILEY DISEASE, CLINICAL REPORT AND MOLECULAR FINDINGS IN MEXICAN PATIENTS

Pamela Orozco Olguin, Venecia Landini Enriquez, Fermin Jurado Santacruz

Diagnostic Odyssey – from protein diathesis to pityriasis rubra pilaris

Katarzyna Osipowicz, Bartlomiej Kwiek, Katarzyna Wozniak, Dominika Sniegórska, Katarzyna Wertheim- Tysarowska2

Difficulties in pain management in a patient with Epidermolysis bullosa dystrophica gravis.

Katarzyna Osipowicz, Katarzyna Wozniak, Karolina Domaracka, Marcin Kolacz, Dariusz Kosson, Cezary Kowalewski

QUALITY OF LIFE EVALUATION IN EPIDERMOLYSIS BULLOSA – QUESTIONNAIRES FOR PATIENTS AND FAMMILIES OF PATIENTS.

Katarzyna Osipowicz, Katarzyna Wozniak, Cezary Kowalewski, Agnieszka Kalinska-bienias

OSVALDO COSTA ACROKERATOELASTOIDOSIS: CASE REPORT

B Paninson, Bm Trope, Dc Quintella, T Cuzzi, M Ramos-e-silva

PACHYONYCHIA CONGENITA : A CLINICAL AND GENETIC EVALUATION

Ninon Patrao, Mukta Sachdev, Sridevi Hegde, Shubhi Sahni

Kindler's syndrome, a clinical, genetic and laboratory study of 210 cases in Panama, 1986-2017.

H Penagos

Punctate palmoplantar keratoderma: characterization of three families with AAGAB mutation

Rita Pimenta, Leonor Lopes, Catarina Urbano, João Ferreira, Paulo Filipe

A severe case of Grover disease treated with combination therapy of acitretin, narrow-band UVB, and bilastine.

Michelle Pratt, Steven Glassman

Irradiated Human Amniotic membrane Allograft in patients with Dystrophic Epidermolysis Bullosa

Nashwa Radwan

Genetic Analysis in a patient with Generalized Cutis Laxa- An interesting case report

Ak Rai, Rr Kolkebail, Jannani A

Association analysis within MHC region of psoriasis vulgaris about family history

Delin Ran, Sen Yang

Dermoscopic changes of melanocytic nevi after afamelanotide implant

Mariateresa Rossi, Mariachiara Arisi, Piergiacomo Calzavara-pinton

A case of hyperimmunoglobulin E syndrome and Kimura disease

Si Ryu, By Kim, Sw Son

“CARVAJAL SYNDROME: A CARDIOCUTANEOUS SYNDROME”

Dr Sachin S, Leelavathy B, Dr Eswari L

CASE REPORT: DELAYED DIAGNOSIS OF GORLIN SYNDROME

S Saldana, Y Turgeman, T Rodriguez

Cardio-Facio-Cutaneous Syndrome : about a rare case

S Salim, A Bentahila, A Sefiani, B Hassam, N Ismaili

Darier disease in teenage female patient: a case report

A Sanader Vucemilovic, A Markota Cagalj, A Bubic, D Vukovic, D Andelinovic, N Puizina Ivic

A Rare But Classical And Different Presentation of Sturge-Weber Syndrome

Jayesh Sanariya

Finding 3 variants not reported in gene COL7A1 in patients with Epidermolysis Bullosa Recessive Dystrophic.

G Sanchez

Cowden syndrome: a rare genodermatosis

Da Sandoval Clavijo, N Plaza Arteaga, Ca Rodriguez Zakzuk

EHLERS-DANLOS SYNDROME WITH INVOLVEMENT OF HEART VALVES

Paula Santana Alves Carneiro, Pedro Dantas Oliveira, Duanne Silva Freitas, Monallisa Lima Andrade, Gleide Maria Gatto Bragança, Kerstin Taniguchi Abagge, Marco Antonio Valadares Oliveira, Sylvia Kathariny Farias Andrade, Victor Fernando Costa Macedo Noronha, Michelle Loyola Ferreira

Bloch-Sulzberger syndrome - an X-linked genodermatosis

M Saraiva, B Silva, C Secundo, F Santos, L Valois, P Oliveira

XERODERMA PIGMENTOSA –A STUDY OF 15 INDIAN FAMILIES AND 21 CASES AND A 5 YEAR FOLLOWUP

Varun Sarin

TO KNOW TO RECOGNIZE

S. Scrivani, C. Feliciani

Solving the jigsaw puzzle of a rare neuroichthyotic syndrome

K Shah

XERODERMA PIGMENTOSUM- A CASE SERIES OF 4 PATIENTS

K Shah

Urinary Cathepsin C and proteinase 3 expression on neutrophils in Papillon Lefevre syndrome with homozygous nonsense mutation in Cathepsin C gene: importance and implications in autoimmune vasculitis

R Shivanna

A RARE CASE REPORT OF LIPOID PROTEINOSIS OF URBACH WIETHE , WITH EYE CATCHING UNIQUE FEATURES

Bhumika Shivaram, Priyadarshini Kharge, Maheshwari Siddaraju

DONOHUE SYNDROME - A DERMATOLOGIST'S PERSPECTIVE

Sanjana Shivashankar

Prenatal Diagnosis in Dermatology - An Overview

Sanjana Shivashankar, Viswanath B K

THOSE SPOTS ON HIS PENIS : IT’S BANNAYAN RILEY RUVALCABA SYNDROME !!

Akhilesh Shukla

HAILEY-HAILEY DISEASE: A NEW THERAPEUTIC APPROACH

Luciana Couto Silva, Isadora Lopes Oliveira Ferreira, Tatiane Benini, Maria Luiza Mussi Stefan Oliveira, Rebecca Silveira, Larissa Ethel Soriano Freire, Ana Carolina Prado, Denise Steiner

Epidermolysis bullosa simplex, generalized intermediate: a family report

Martina Silvestri, Stefano Dastoli, Luigi Bennardo, Elisabetta Scali, Giusy Schipani, Steven Paul Nisticò

Late-onset of neurofibromatosis type i (NF 1)

L Šimic, I Bojcic, N Puizina Ivic

WHEN TIME LOST TRACK OF TIME

Dr Aditi Singh, Dr Asha Gs

Steroid induced rosacea in a patient with Familial benign chronic pemphigus (Hailey-Hailey diseases)

Maka Sirbiladze, Lali Mekokishvili

Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant

Qinghua Song, Xiaodan Chang

A rare case report of Squamous cell carcinoma in Epidermolysis bullosa dystrophic

Naeem Soomro, Mour Khan

A polymorphic rash revealing the diagnosis of tuberous sclerosis

Y Soua, K Belhareth, M Daldoul, M Ben Salem, B Sriha, M Korbi, I Lahouel, H Belhajali

Noonan syndrome (Leopard syndrome) - multiple lentigines in disguise

Felix Sponagl, Michael Sticherling, Michael Erdmann, Nicola Wagner

“CHALLENGES IN HAIR SHAFT DEFECTS”- A STUDY OF MONELETHRIX GENES.

Sundaramoorthy Srinivasan

Annular epidermolytic ichthyosis: A rare phenotypic variant of bullous congenital ichthyosiform erythroderma

Jitender Taneja

Brooke–Spiegler syndrome: a case report

Filipa Tavares Almeida, Regina Caldas, Ana Patrícia Rodrigues, Olga Ferreira, Celeste Brito

Internal malignancies in patients with xeroderma pigmentosum

S Triki Ben Ammar, M Zghal, M Jones, A Elloumi

Autophagy and Inflammation Relation in Skin Cells

J Trivero, K Dong, D Collins, N Pernodet

Treatment of Dominant Dystrophic Epidermolysis Bullosa with Oral Methotrexate Resulting in Sustained Remission.

Y Turkowski, N Konnikov, Ar Ahmed

CLINICAL PROFILE OF PALMOPLANTAR DERMATOSES: A CROSS SECTIONAL STUDY FROM RURALINDIA

Mahesh Unni, Monalisa Edinburgh

Muco-cutaneous findings in hereditary hemorrhagic telangiectasia (HHT): genotype-phenotype correlation of 62 adult Italian patients.

C. Vassallo, F. Pagella, G. Spinozzi, A. De Silvestri, G. Manna, E. Moggio, C. Giorgini

Hypohidrotic ectodermal dysplasia (HED): Report of 24 new Cases

A. Veleda, M. Fiandrino, N. Primc, R. Alperovich, M. E. Abad, M. Boente, M. Larralde

Prevalence study of skin cancers in a retrospectiv cohort of Xeroderma Pigmentosum (XP) in black patients

S. Ventejou, K. Bagny, J. Waldmeyer, F. Cartault, L. Machet, S. Osdoit

Renal tumors and facial papules: a late diagnosis of a rare genodermatosis

C Villeneuve-tang, A Bélisle

Wheat-dependent Exercise-induced Anaphylaxis in Chinese People： A Clinical Research on 24 Cases and Antigenic Analysis of Wheat Proteins

Duoqin Wang, Yiqi Zhu, Yanyun Shen, Hui Tang

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with FLNA mutation

Lin Wang, Zhongtao Li

Transient neonatal zinc deficiency caused by a homozygous E88K mutation in the maternal SLC30A2 gene

S Wang, D Wang, Y Yang

A PATHOGENIC VARIANT IN ALAS2 SEGREGATED WITH FAMILIAL X-LINKED DOMINANT PROTOPORPHYRIA IN A LARGE MULTI-GENERATIONAL CHINESE FAMILY

Tao Wang

The first reported case of secondary tumours arising from nevus sebaceous at birth.

Lynette Wee, Valerie Ho, Sharon Wong, Alice Foong, Mark Koh

Integration of protein interaction and gene co-expression information for identification of melanoma candidate genes

Kejia Wu, Wenyu Wu

A novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis

J Xiao, D-d Zhang, L Zhang

Alopecia in Epidermolysis Bullosa: A Systematic Review of Pathogenesis and Clinical Features of Disease

D Xie, A Bilgic-temel, N Abu Alrub, D Murrell

Premature aging syndrome, Penttinen type: Report of a Chinese case with PDGFRB mutation

Xg Xu, Xh Gao, Hd Chen

Evaluation of moisturizing bath agent for skin dryness and itching of Fabry disease patients

Hiroshi Yamamoto, Kazuya Tsuboi

Xeroderma pigmentosum : Challenge of diagnosis in West Africa

K Yamoussa, B Sirithio, T Bekaye, G Mamadou, D Brehima, C Lamissa, D Adama, F Ousmane

A CASE OF POROKERATOSIS PTYCHOTROPICA

Bx Yan, Jq Chen, Xy Man

A Chinese case of congenital ichthyosiform erythroderma with ABCA12 mutations

Zhou Yang, Zhe Xu, Lin Ma

Analysis of COL7A1 gene mutations in 6 Chinese families with dystrophic epidermolysis bullosa

Zhou Yang, Zhe Xu, Lin Ma

Early diagnosis of Hutchinson-Gilford progeria syndrome with LMNA mutation

Zhou Yang, Zhe Xu, Lin Ma

Expanding the genotype-phenotype correlations of Keratinopathic ichthyosis: A case series

Zhou Yang, Zhe Xu, Lin Ma

The extra-cutaneous findings in Darier disease- a cohort study of 76 patients

A Yeshurun, M Ziv, E Cohen-barak, S Vered, D Rozenman, M Sah, M Khayat, O Polyakov, E Adler, C Nadler, B Amichai, A Zlotogorsky, S Shalev, R Dodiuk-gad

The cutaneous manifestations of Darier disease proposing a new disease classification- a cohort study of 76 patients.

A Yeshurun, M Ziv, E Cohen-barak, S Vered, D Rozenman, M Sah, M Khayat, O Polyakov, A Amichai, A Zlotogorsky, S Shalev, R Dodiuk-gad

Linear and whorled nevoid hypermelanosis associated with a novel KITLG somatic mutation

A Yuki, S Shinkuma, R Yokoyama, T Kawai, Y Kabata, R Hayashi, H Nguyen, K Takamura, K Tomiyama, R Abe

How do we explain vitamin D rickets in Tunisian patients with lamellar ichthyosis in a sunny country?

A Zaouak, G Abdessalem, S Abdelhak, H Hammami, S Fenniche

Is yellowish keratoderma a clue for the diagnosis of Sjogren Larsson disease?

A Zaouak, G Abdessalem, S Abdelhak, H Hammami, S Fenniche

Should we recommend a peripheral blood smear to patients with congenital ichthyosiform erythroderma?

A Zaouak, G Abdessalem, S Abdelhak, H Hammami, S Fenniche

Expanding mutation landscape of bathing suit ichthyosis in Tunisia

A Zaouak, O Magdoud, G Abdessalem, L Boussofara, S Abdelhak, H Hammami, S Fenniche

Rare genodermatoses in our dermatologic practice

Hana Zelenkova, M.d., Ph.d., Mba

Segmental hyperpigmented patch within scattered cafe´ au lait macules, an early sign for segmental neurofibromatosis type 1 or just solitary benign pigmentation?

J Zhang, M Li, Z Yao

Rothmund-thomson syndrome: 4 new cases from three unrelated families in China

Xinyue Zhang, Yi Zheng, Songmei Geng

Anetoderma of Schweninger-Buzzi

Ying Zhang

Clinical and gene mutation analysis of Blau syndrome

Yi Zheng, Xinyue Zhang, Jing Li, Songmei Geng

dsRNA sensing induces loss of cell identity

Rz Zhou, Gw Wang, Dk Kim, Sk Kim, Ni Islam, Rc Chen, Zw Wang, Em Mccarthy, Zh Hu, Ll Li, Lg Garza

One case of porokeratosis

Y Zhou

HYALINOSIS CUTIS ET MUCOSAE. A FOLLOW-UP OF 20 YEARS

A Zoghlami