Related Experiment Video
Updated: Mar 27, 2026
05:39
Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
Published on: May 16, 2025
842
Facial features in Harlequin ichthyosis: Clinical findings about 4 cases
J-D Kün-Darbois1, A Molin2, C Jeanne-Pasquier2
1Service de chirurgie maxillo-faciale, hôpital Côte de Nacre, CHU de Caen, 14033 Caen cedex, France.
Summary
Harlequin ichthyosis is a severe congenital skin condition affecting newborns. Advances in neonatal care, including retinoid therapy, are improving survival rates for affected infants.
Area of Science:
- Dermatology
- Neonatology
- Genetics
Background:
- Harlequin ichthyosis is a rare, severe congenital ichthyosis characterized by significant facial and skin abnormalities.
- The condition presents unique challenges in neonatal care due to its severity and potential complications.
Observation:
- Four cases of Harlequin ichthyosis are presented, detailing characteristic facial features.
- Observed facial features include severe ectropion, conjunctival edema, eclabium, flattened ears, broadened nose, and thick, plate-like skin scales.
Findings:
- Recent advancements in neonatal intensive care have notably improved survival rates for infants with Harlequin ichthyosis.
- Retinoid therapy has emerged as a significant factor in enhancing patient outcomes and survival.
Implications:
- Early surgical intervention for ectropion is crucial to prevent or manage ocular complications.
- Improved survival necessitates a multidisciplinary approach to neonatal care, addressing both dermatological and ophthalmological needs.
Related Concept Videos
01:25Endocarditis II: Clinical Features of Infective Endocarditis
770
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
770
01:11Papillary Dermis
6.7K
Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...
6.7K
01:23Skin Diseases and Disorders
6.1K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
6.1K
01:29Cardiovascular System Abnormal Findings I: Inspection and Palpation
1.2K
In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
Abnormal findings observed during an inspection
1.2K
01:14Changes in Skin Color: Clinical Perspectives
4.1K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
4.1K
01:21Accessory Structures of the Skin: Sebaceous Glands
5.4K
A sebaceous gland is a type of oil gland found almost all over the skin ( except palms and soles) and helps lubricate and waterproof the skin and hair. Most sebaceous glands are associated with hair follicles. They generate and excrete sebum, a mixture of lipids, onto the skin surface, thereby naturally lubricating the dry and dead layer of keratinized cells of the stratum corneum, keeping it pliable.
These glands that produce the oils on the skin and hair are holocrine glands. The mature...
These glands that produce the oils on the skin and hair are holocrine glands. The mature...
5.4K