Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

被引:1
作者
Garcia-Garcia, Sandra Cecilia [1 ]
Herz-Ruelas, Maira Elizabeth [1 ]
Gomez-Flores, Minerva [1 ]
Vazquez-Herrera, Norma Elizabeth [2 ]
Misciali, Cosimo [3 ]
Tosti, Antonella [4 ]
Chavez-Alvarez, Sonia [1 ]
Ocampo-Candiani, Jorge [1 ]
Villarreal-Martinez, Alejandra [1 ]
机构
[1] Univ Autonoma Nuevo Leon, Hosp Univ Dr Jose Eleuterio Gonzalez, Dept Dermatol, Monterrey, Mexico
[2] Escuela Med & Ciencias Salud, Tecnol Monterrey, Monterrey, Mexico
[3] Univ Bologna, Dept Dermatol, Bologna, Italy
[4] Univ Miami, Miller Sch Med, Miami, FL 33136 USA
来源
SKIN APPENDAGE DISORDERS | 2020年 / 6卷 / 03期
关键词
Trichorhinophalangeal syndrome; Loose anagen syndrome; Trichoscopy; Trichogram; Pull-test; SYNDROME TYPE-I; MENTAL-RETARDATION; HAIR SYNDROME;
D O I
10.1159/000506524
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Loose anagen syndrome (LAS) is a sporadic or autosomal dominant condition due to abnormalities in the hair's anchoring mechanism. It mostly affects children, who usually have reduced hair length, as well as hair that is easily plucked without pain. Recent contributions regarding trichoscopic findings of LAS have been made, describing rectangular black granular structures as a typical feature. An association between TRPS and LAS has been mentioned by hair experts, but no reports documenting this have been published. This case demonstrates the co-existence of both conditions in a patient with characteristic phenotypic traits of TRPS and LAS.
引用
收藏
页码:162 / 167
页数:6
相关论文
共 50 条
[31]   Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review [J].
Ellison, Emily ;
Grampp, Steven J. ;
Ellison, Seth ;
Seeley, Andrea ;
Seeley, Mark .
JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS GLOBAL RESEARCH AND REVIEWS, 2024, 8 (08)
[32]   Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling [J].
Corsini, Carole ;
Gencik, Martin ;
Willems, Marjolaine ;
Decker, Eva ;
Sanchez, Elodie ;
Puechberty, Jacques ;
Schneider, Anouck ;
Girard, Manon ;
Edery, Patrick ;
Bretonnes, Patricia ;
Cottalorda, Jerome ;
Lefort, Genevieve ;
Jeandel, Claire ;
Sarda, Pierre ;
Genevieve, David .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (01) :136-139
[33]   The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report [J].
Altunhan, Huseyin ;
Annagur, Ali ;
Ors, Rahmi .
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, 2011, 31 (02) :464-467
[34]   Doors Syndrome: Case Report [J].
Cebeci, Duo ;
Fifki, Didem .
INDIAN JOURNAL OF DERMATOLOGY, 2022, 67 (02) :161-163
[35]   Case Report: Waardenburg Syndrome [J].
Dumayas, Grace Lea ;
Capo-Aponte, Jose E. .
MILITARY MEDICINE, 2015, 180 (03) :E381-E387
[36]   High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective [J].
Evans, Scott ;
Brewer, Paul ;
Vaiyapuri, Sumathi ;
Grimer, Robert .
JOURNAL OF BONE ONCOLOGY, 2013, 2 (02) :92-93
[37]   OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION (CROSS SYNDROME) - REPORT OF A NEW CASE [J].
LERONE, M ;
PESSAGNO, A ;
TACCONE, A ;
POGGI, G ;
ROMEO, G ;
SILENGO, MC .
CLINICAL GENETICS, 1992, 41 (02) :87-89
[39]   Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features [J].
Jeon, Jiehyun ;
Kim, Joo Ha ;
Oh, Chil Hwan .
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2014, 80 (01) :54-57
[40]   Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (vol 27, pg 436, 1997) [J].
Herman, TE ;
Chines, A ;
McAlister, WH ;
Gottesman, GS ;
Eddy, MC ;
Whyte, MP .
PEDIATRIC RADIOLOGY, 1997, 27 (11) :864-864