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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Clinical presentation: The classic Netherton syndrome includes fragile, short, and brittle hair, known as bamboo hair (trichorrhexis invaginata), and a tendency to develop other atopic tendencies, such as food allergies. The classic clinical presentation is known as ichthyosis linearis circumflexa, which are annular plaques with a classic double-edged scale. Patients may also experience blistering, erosions, and pruritus.
Ichthyotic disorders
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by erythroderma, ichthyosis, hair shaft defects, and atopy. NS is caused by mutations in the SPINK 5 gene which encodes lymphoepithelial Kazal-type-related inhibitor (LETK1). NS manifests at birth as generalized scaling and erythroderma at birth or during the early infantile period but not with collodion baby phenotype (Figure 22.6) [10]. After 2 years, they develop characteristic ichthyosis called ichthyosis linearis circumflexa (ILC). ILC presents as migratory, polycyclic scaly lesions with a peripheral double-edged scale (Figure 22.7). Associated features include failure to thrive, hypernatremic dehydration secondary to excess fluid loss from the defective skin barrier, delayed growth, short stature, and recurrent infections. Approximately 75% of those with NS develop atopic manifestations with increased serum IgE levels. The pathognomic feature of NS is the hair shaft defect called trichorrhexis invaginata (TI) or a ball-and-socket defect (Figure 22.8). Trichorrhexis nodosa and pili torti can also be seen in NS [11]. Examining eyebrow hairs is more informative for diagnosing hair shaft defects. Histology shows psoriasiform dermatitis. Any child presenting with neonatal erythroderma should be investigated for hair shaft defects to rule out NS.
Hair dysplasias
Published in Pierre Bouhanna, Eric Bouhanna, The Alopecias, 2015
Juan Ferrando, L. Alheli Niebla, Gerardo A. Moreno-Arias
Clinical diagnosis. Characteristically, the affected individual is a female with ichthyosis linearis circumflexa (plaques with doubled squamous border), atopy, and diffuse hypotrichosis (scarce and brittle hair). Other associated conditions are ichthyosis vulgaris and congenital erythroderma ichthyosiformis. Trichothiodystrophy may also be associated with ichthyosis, a condition that should be ruled out.
Advances in understanding of Netherton syndrome and therapeutic implications
Published in Expert Opinion on Orphan Drugs, 2020
Evgeniya Petrova, Alain Hovnanian
The skin manifestations often remain severe during infancy and childhood, but tend to improve in teenagers and adults. IE can be patchy or generalized in infants and is often more pronounced on the face, where redness and peeling of the skin is intense (Figure 1A, Figure 1C) [7]. IE can evolve into characteristic and specific ichthyosis linearis circumflexa (ILC) which consists in erythematous serpiginous and migratory lesions surrounded by a double-edged scale (Figure 1B, Figure 1D). Although very suggestive of NS, ILC is not constant and IE can persist through adulthood with no ILC, defining two different endotypes Figure 1C. The skin lesions have a fluctuating course with periods of inflammatory and scaly flares, with intense itching, separated by periods of remission. Pruritus is a constant feature especially during flares and is a significant factor of disease worsening via irritability, sleep disturbance, scratching and skin infections. Hair abnormalities are highly suggestive of NS but are delayed (usually after one year of age) and remarkably variable. Hair is often sparse, thin, short, and fragile with a spiky appearance and typically slow to grow. The same applies to eyebrow, eyelashes and body hair Figure 2.