Results 71 to 80 of about 50,601 (205)

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

In Vitro Evaluation of the Effects of Multipoint Hyaluronic Acid‐Based Intradermal Fillers on Skin Quality Using a Novel 3D Reconstructed Skin Aging Model

Journal of Cosmetic Dermatology, Volume 24, Issue 9, September 2025.
ABSTRACT Background Superficial injection of hyaluronic acid (HA)‐based gels is a widely used method to restore skin quality and achieve a more youthful appearance. While the clinical benefits of such procedures are well established, their biological mechanisms of action remain poorly understood. Objective This study aimed to evaluate the effectiveness
Marion Albouy, Morgan Dos Santos, Kilian Laho, Denis Couchourel, Frédéric Tranchepain   +4 more
wiley   +1 more source

Lamellar ichthyosis and arthrogryposis in a premature neonate

, 2015
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients.
Silvana Rojo, Claudio Lembo, Alfredo Santantonio, Paolo Giliberti, Tiziana Fioretti, Massimiliano De Vivo, ESPOSITO, GABRIELLA, Chiara De Leonibus, Francesco Salvatore   +8 more
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases

Indian Journal of Paediatric Dermatology, 2016
Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin.
K Pratyusha, P Divya Sree, BSN Reddy
doaj   +1 more source

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Serra, V, Bui, L, Talamonti, E, Melino, G, SETTE, MARCO, MELINO, GENNARO, Zambruno, G, Candi, E, CANDI, ELEONORA, Codispoti, A, Palombo, R, Annicchiarico Petruzzelli, M, Didona, B, Annicchiarico-Petruzzelli, M, Campione, E, Terrinoni, A, Sette, M   +16 more
core   +1 more source

Two cases of lamellar ichthyosis with unusual hair shaft abnormalities

, 1985
The authors describe two brothers presenting the clinical picture of lamellar ichthyosis. The scanning electron microscopy and transmission electron microscopy study of their hair demonstrated important recurrent anomalies of the hair ...
R. Piccinno, F. Sala, C. Crosti, S. Menni   +3 more
core   +1 more source

Non-surgical management of ectropion using hyaluronic acid gel with cannula injection [PDF]

Surgical & Cosmetic Dermatology
The treatment of eyelid ectropion remains challenging. Surgical approaches are more widely used, but techniques using hyaluronic acid have shown increasing promise.
Ana Paula Dornelles Manzoni, Fabiane Kumagai Lorenzini, Taisa de Boni Gauer, Bruna Bonamigo Thomé, Renan Rangel Bonamigo   +4 more
doaj   +1 more source

Lamellar ichthyosis

, 1997
Lamellar ichthyosis. The abnormal stratum corneum has produced what appears as very thick scale on the skin, and with an abnormal barrier layer these patients commonly get secondary staphylococcal and yeast infections.
Bezzant, John L.
core  

Prenatal Exclusion of Lamellar Ichthyosis Based on Identification of Two New Mutations in the Transglutaminase 1 Gene [PDF]

, 1998
Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis.
Wu, Welby W., Elder, James T., Bichakjian, Christopher K., Goldberg, Simon, Nair, Rajan P.   +4 more
core   +1 more source