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(a) Green-stick fracture. (b) Decreased bone density. (c, d) Hyperkeratosis, acanthosis, hypergranulosis, large papillae, blunt rete ridges and supra-papillary perivascular lymphocytic infiltration; HE (100x), (200x).
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Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural a...
Contexts in source publication
Context 1
... had signs of rickets in the form of pigeon-shaped chest, widening of the wrists & ankles and knock- knees deformity. Her lower limb bones showed marked lateral bowing (Fig.2). Both fontanelle were closed. ...Context 2
... was a generalized decrease in bone density especially of long bones. Long bone deformities with bowing of the tibia, fibula, femur and radius were seen radiologically (Fig.2). Knee and wrist joints showed expansion of metaphyses & epiphyses. ...Context 3
... and wrist joints showed expansion of metaphyses & epiphyses. There was also minimal cupping along with some sclerotic changes at the wrist joint which indicates an evidence of healing changes of rickets (Fig.2). There was an incomplete fracture with marginal sclerosis at the meta-diaphysial end of fibula called green-stick fracture which is common in rickets (Fig.2). ...Context 4
... was also minimal cupping along with some sclerotic changes at the wrist joint which indicates an evidence of healing changes of rickets (Fig.2). There was an incomplete fracture with marginal sclerosis at the meta-diaphysial end of fibula called green-stick fracture which is common in rickets (Fig.2). Ultrasonography of abdomen and pelvis showed no abnormality. ...Similar publications
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis. A case report of early chil...
Lamellar ichthyosis (LI) is a genetic skin disorder characterized by dark brown scales, palmoplantar hyperkeratosis, pain, and itching. LI severity could have implications in psychological aspects, causing depression and impairment in the quality of life (QoL) of patients. In this study, we used the Congenital Ichthyosis Severity Index, the Depress...
Citations
... ARCI has a broad clinical spectrum with variable severity (Vahlquist et al., 2018). The alteration of the skin barrier is mainly manifested by thick, dark brown, generalized scales accentuated on the lower extremities and flexures, accompanied by scaling and erythema in severe cases, resulting in increased transepidermal water loss (Ali et al., 2013;Vahlquist et al., 2018;Gutiérrez-Cerrajero et al., 2023). Oral involvement (Ramar et al., 2014;Nair and Kodhandram, 2016), hypoacusis (Huang et al., 2014), palmoplantar hyperlinearity, diffuse yellowish palmoplantar keratoderma, ectropion, pruritus, alopecia, digital contractures, subungual hyperkeratosis, onychogryphosis, keratosis pilaris, malformation of the nasal cartilage, severe inflammation with a specific immunologic profile and frequent births as collodion babies have also been described (González-Del Carmen et al., 2020;Vahlquist et al., 2018;Süßmuth et al., 2020;Paller, 2019). ...
Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema. The degree of symptoms is variable, different altered genes are involved, and the symptoms drastically affect patients’ quality of life. Topical treatments are a first-choice strategy due to their ease of application and cost; however, enteral administration of retinoids offers greater efficacy, although with certain limitations. Despite the treatment alternatives, ARCI will persist throughout life, disabling people. Therefore, the search for new treatments always remains necessary. Especially repositioning drugs could be a short-term alternative to new affordable treatments for patients. Taking advantage of extensive knowledge of known drugs or biologics could ensure more accessible and possibly lower-cost treatments. This review briefly and concisely addresses possible repositioning strategies with drugs and biologics for ichthyosis.
... 1 Recently, several associated comorbidities have also been reported including atopic dermatitis, rickets, chronic irreversible pulpitis, pseudoainhum of the toes, and nuclear cataract. [2][3][4][5] The use of oral retinoids, emollients, and keratolytic agents eg, lactic acid are the main treatment methods for LI. 6 This article reports the successful treatment of an adult with LI and atopic dermatitis using Dupilumab. ...
Lamellar ichthyosis (LI) is a rare autosomal cornification disorder, with most cases due to a mutation in the transglutaminase-1 (TGM1) gene on chromosome 14. Patients with LI usually present with a collodion membrane and mild erythroderma at birth, with the collodion membranes shedding within the first weeks of life and being replaced by a generalized scale. Typically, LI is managed with oral retinoids, emollients, and keratolytic agents, eg, lactic acid. We report an LI case associated with atopic dermatitis and asthma that showed a marked improvement with dupilumab treatment. This finding is highly significant as it may represent a breakthrough in the treatment of LI, thus more research is needed to investigate the potential benefits of dupilumab for the treatment of ichthyosis, such as the effects observed in our patient.
D Vitamini Kimyasal Yapısı ve Metabolizması Hülya Cenk D Vitamini Ve Genetik Aydın Rüstemoğlu D Vitamininin Normal Serum Düzeyleri, D Vitamin Düzeylerini Etkileyen Faktörler Ve D Vitamini Yetmezliği Sabiye Akbulut Serum D Vitamininin Ölçümü Andaç Uzdoğan, Çiğdem Yücel D Vitamini Biyoyararlanımı ve Doğal Beslenme Kaynakları Atilla Çifci, Halil İbrahim Yakut Sistemik D Vitamini Tedavi Ajanları, Biyoyararlanımı ve Tedavi Yönetimi Işıl Deniz Oğuz Topikal D Vitamini Tedavisi, Tedavi Yönetimi ve Kullanıldığı Hastalıklar Dursun Türkmen Deride D Vitamini Sentezi Mekanizmaları Abdullah Demirbaş, Ömer Faruk Elmas Güneşten Koruyucu Kullanımı ve D Vitamini Nursel Dilek, Yunus Saral D Vitamininin Deri Yapısı ve Fizyolojisine Etkisi Pelin Hızlı Deri Yaşlanması ve D Vitamini Ülker Gül Psoriasis ve D Vitamini Ülker Gül Psöriatik Artrit ve D Vitamini Mehmet Uçar Atopik Dermatit ve D Vitamini Ayşegül Ertuğrul, İlknur Bostancı Mast Hücresi ve Kutanöz Mastositozda D Vitamini Selçuk Doğan, Tülin Çataklı, İlknur Bostancı Ürtiker ve D Vitamini Kemal Özyurt Kaşıntı ve D Vitamini Kübra Yüce Atamulu Likenoid Dermatozlar ve D Vitamini Nihal Altunışık Vitiligo ve D Vitamini Ayşe Akbaş Melasma ve D Vitamini İbrahim Etem Arıca Rozase ve D Vitamini Nalan Saraç Akne ve D Vitamini Selma Korkmaz Hidradenitis Süpürativa ve D Vitamini Yılmaz Ulaş Seboreik Dermatit ve D Vitamini Dilek Başaran Otoimmün Büllöz Hastalıklar ve D Vitamini Sezgi Sarıkaya Solak Bağ Doku Hastalıkları ve D Vitamini Kevser Gök Behçet Hastalığı ve D Vitamini Şule Ketenci Ertaş, Ragıp Ertaş İdiyopatik Fotodermatozlar ve D Vitamini Bülent Nuri Kalaycı İktiyozis ve D Vitamini Tubanur Çetinarslan Epidermolizis Bülloza ve Vitamin D Eda Haşal Kseroderma Pigmentozum, Epidermodisplasia Verrusiformis ve D Vitamini Derya Yayla Nevüsler ve D Vitamini Serpil Şener, Suat Sezer Aktinik Keratoz ve Seboreik Keratozda D Vitamini Mahmut Sami Metin Deri Maliniteleri ve D Vitamini Sevda Önder Vaskülitler ve Vitamin D Havva Hilal Ayvaz Venöz Trombozis ve D Vitamini Cahit Yavuz Yara İyileşmesi ve D Vitamini Bülent Nuri Kalaycı Diyabetik Ayak Ülseri ve D Vitamini Gözde Ulutaş Demirbaş, Abdullah Demirbaş Granülomatöz Hastalıklar ve D Vitamini Selma Bakar Dertlioğlu Deri Enfeksiyonları ve Vitamin D Atıl Avcı Oral Mukoza Hastalıkları ve D Vitamini Ali İhsan Güleç Tırnak Sağlığı ve Hastalıklarında D Vitamini Hülya Cenk Alopesiler ve D Vitamini Munise Daye Hirsutizm ve D Vitamini Efşan Gürbüz Yontar Sistemik Kortikosteroid Kullanımında D Vitamini Desteği Selma Korkmaz Fototerapi ve D Vitamini Tuğba Özkök Akbulut Covıd-19 Ve Vitamin D Sibel Altunışık Toplu D Vitamini Tedavisinin Yan Etkileri ve D Vitamini Tedavisi Sürecinde Dikkat Edilecek Hususlar Dursun Türkmen, Nihal Altunışık D Vitamini Ve İlaç İlaç Etkileşimleri Şule Gökşin D Vitamini İntoksikasyonu Bedriye Müge SÖNMEZ
The majority of keratinization disorders are referred to as Mendelian disorders of cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible scaling or both. This chapter deals with the ichthyoses, palmoplantar keratodermas (PPKs) and miscellaneous cornification disorders such as porokeratoses. It is aimed primarily at dermatologists and physician scientists who have to make a clinical diagnosis and provide adequate management for their patients. Therefore a nosology and classification scheme has been chosen that is based on clinicogenetic and morphological features. Clinical diagnoses are then discussed with their molecular pathology. Part of the chapter addresses the management of congenital ichthyoses. Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. Finally, several cornification disorders are discussed that do not have a genetic basis, but are acquired or are of unknown aetiology (e.g. acquired ichthyoses/PPKs or perforating keratotic disorders).
