Related Experiment Video
Updated: Mar 30, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
A Sporadic Case of Ichthyosis Curth Macklin: Rare Presentation of a Rare Disease
Sharad Mehta1, Uma Shankar Agarwal1, Nidheesh Agarwal1
1Department of Dermatology, SMS Medical College, Jaipur, Rajasthan, India.
Abstract:
Ichthyosis hystrix is a rare autosomal dominant genodermatosis, characterized by persistent spiny hyperkeratotic scales which cover a significant part of the skin surface. Based on the pattern of distribution, five clinical variants namely Brocq type, Lambert type, Curth-Macklin type, Rheydt type and Bδfverstedt type have been described. We report the case of an 11-year-old male child with spiny, hyperkeratotic scales all over the body since birth with sparing of scalp and central part of the face. Palmoplantar keratoderma was also present. These clinical features are suggestive of Ichthyosis Curth Macklin, which has been typically described in families. However, family history was negative in our patient. The case is being reported on account of rarity of the disease, that too with a very rare sporadic presentation.
More Related Videos
10:27Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Related Concept Videos
Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Sex-linked Disorders
Pleiotropy
Animal Mitochondrial Genetics
Cytoskeletal Linker Proteins - Plakins
Meiosis I