Retinoids in Keratinization Disorders
Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish in Retinoids in Dermatology, 2019
Palmoplantar keratodermas can be seen in many genodermatoses as a major manifestation. The types of the lesions and pattern of inheritance change from family to family. Diffuse-type palmoplantar keratodermas can present as epidermolytic keratoderma or nonepidermolytic keratoderma. Nonepidermolytic diffuse palmoplantar keratoderma starts at the first year of life. This genodermatosis has an autosomal dominant inheritance pattern and it is characterized by symmetrical and excessive thickening of the palmoplantar areas with a yellowish discoloration. Lesions may spread to the dorsal regions of hand and foot. Epidermolytic diffuse palmoplantar keratodermas have also an autosomal dominant inheritance pattern. It is characterized by very well-defined, excessive, and symmetrical keratoderma with fine fissuring. Pain with manual work and walking can be seen. Different clinical types including punctate palmoplantar keratoderma, striate palmoplantar keratoderma, diffuse palmoplantar keratoderma, and mutilating palmoplantar keratoderma and also association with tyrosinemia have been described.
Nail in children: Congenital and hereditary diseases
Archana Singal, Shekhar Neema, Piyush Kumar in Nail Disorders, 2019
Type I (Jadassohn and Lewandowsky type): It is due to mutations in keratin 6a and 16. The nails in this syndrome are normal at birth but become progressively discolored and thickened with age, usually in the first year. Wedge-shaped or V-shaped subungual hyperkeratosis is the characteristic finding (Figure 24.5). This may develop in one of two ways: nails that grow to full length but have an upward inclination due to prominent subungual distal hyperkeratosis or “early ending of the nail” and the curving of distal hyperkeratosis. The other associated features include palmoplantar hyperhidrosis, acral bulla, and oral leukokeratosis. Plantar keratoderma poses another limitation in these patients and can be present in 10.4% of affected patients (Figures 24.5 and 24.6). The keratoderma is more prominent at pressure points on the heel and ball of great toe.
Differential diagnoses of psoriasis
M. Alan Menter, Caitriona Ryan in Psoriasis, 2017
Involvement of the palms and soles in lichen planus is rare.81 Several different morphological patterns have been described: erythematous plaques, punctate keratosis, diffuse keratoderma (Figure 12.123), and ulcerated lesions.81 The most common presentation is of erythematous scaly, hyperkeratotic plaques, most frequently on the soles of the feet.17,81 Itch is commonly reported. Palmoplantar lichen planus shows histological features similar to other sites: focal parakeratosis, irregular epidermal hyperplasia, wedged shaped hypergranulosis and spongiosis, vacuolar degeneration, Max–Joseph spaces, and a band-like lymphohistiocytic infiltrate.16,17,81
Naxos disease – a narrative review
Published in Expert Review of Cardiovascular Therapy, 2020
Marianna Leopoulou, Gustav Mattsson, Jo Ann LeQuang, Joseph V Pergolizzi, Giustino Varrassi, Marita Wallhagen, Peter Magnusson
The Naxos disease phenotype is categorized into cardiac manifestations and extracardiac characteristics. Typically, woolly, rough, dull hair that was apparent from birth [9], and diffuse non-epidermolytic palmoplantar keratoderma, which developed during the first year of life, as soon as the child started using hands and feet, were present in all patients [9]. Some patients present with short fingers, curved nails, and small arms and hands [2]. In more detail, patients’ lesions were described as tight woolly hair and diffuse palmoplantar keratosis, occasionally erythematous, not extending to the dorsal area. Furthermore, those lesions are reported to have clear borders [14]. Hypo/oligodontia has also been reported in association with the phenotype of woolly hair, keratoderma, and cardiomyopathy [15].
Punctate porokeratosis—pruritic and hyperkeratotic papules on the palms and feet
Published in Baylor University Medical Center Proceedings, 2020
Patrick Michael Jedlowski, Gina Rainwater, So Yeon Paek
Other clinical entities may mimic PP, including keratosis puncta of the palmar creases, arsenical keratosis, and nevus comedonicus. Keratosis puncta of the palmar creases is a benign condition and variant of punctate keratoderma that occurs most commonly in African American patients. It is typified by hyperkeratotic pits limited to the palmar creases, as opposed to the diffuse palmoplantar lesions in our patient. Arsenical keratosis occurs due to chronic ingestion of arsenic most commonly via contaminated well water and presents with pigmentary changes of truncal skin and mucous membranes, palmoplantar keratosis, and Mee’s lines of the nails.9 Arsenical palmoplantar keratoses range in clinical appearance from indurated, gritty millimeter palmoplantar papules to yellow, verrucous papules and plaques.9 On histology, arsenical keratosis is characterized by compact hyperkeratosis and a thickened stratum granulosum but lacks the columns of parakeratosis seen in our case.9 Nevus comedonicus is a hamartomatous growth of the pilosebaceous unit distinguished by dilated follicles with pigmented, keratinaceous plugs and histopathology displaying epidermal invagination, hyperkeratosis and follicular plugging, which is not seen in this case.
Managing pediatric psoriasis: update on treatments and challenges—a review
Published in Journal of Dermatological Treatment, 2022
A. A. Hebert, J. Browning, P. C. Kwong, A. M. Duarte, H. N. Price, E. Siegfried
Other, distinct phenotypes can occur at any age, including skin-fold (“inverse”), palmoplantar, and pustular PsO. Some phenotypes, such as napkin and inverse PsO, are more common in infants than in children and adolescents (29). A phenotype with features of both PsO and eczema often referred to as “psoriasiform dermatitis” or “overlap,” may be more common in children than adults (30). Rare forms of severe, early-onset skin disease with pustular PsO-like features, osseous involvement, and autoinflammatory morbidities have been associated with specific mutations in IL1RN and referred to as deficiency of the IL-1 receptor antagonist, or DIRA. Deficiency of the IL-36 receptor antagonist, or DITRA, is a similar condition but lacks bony involvement and is linked to mutations in IL36RN (31,32). An atypical psoriatic eruption featuring facial involvement and palmoplantar keratoderma is associated with a mutation in CARD14 (33). Recognition of these genotypes and treatment with targeted biologic therapy can result in dramatic clearing (34,35).
Related Knowledge Centers
- Palmoplantar Keratoderma
- Meleda Disease
- Erythrokeratodermia Variabilis
- Naegeli–Franceschetti–Jadassohn Syndrome
- Papillon–Lefèvre Syndrome
- Pachyonychia Congenita
- Camisa Disease
- Ectodermal Dysplasia
- Clouston'S Hidrotic Ectodermal Dysplasia
- Kindler Syndrome