Genodermatoses

Abstract

Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Recurrent mutations in unrelated families were seen in families with xeroderma, Griscelli. It seems likely that eventually oligonucleotide arrays will replace most other methods for routine mutation scanning of the more common diseases and planned sequencing will be increasingly used for rarer diseases.

Oral White Lesions: An Updated Clinical Diagnostic Decision Tree

“…Infrequent cases of autosomal dominant and autosomal recessive forms have been reported as well [5,9]. Defects in telomere preservation, which protects chromosomal ends against deterioration and inappropriate recombination lead to dyskeratosis congenita [10,11]. This is a rare condition with the annual incidence rate of one per one million population It usually emerges between the ages of 5 to 12 years.…”

“…Malignant transformation is reported in approximately 30% of the leukoplakic lesions with a progression to Oral Squamous Cell Carcinoma (OSCC) within 10–30 years. Therefore, the physician should schedule frequent monitoring and biopsy taking of suspicious lesions for early diagnosis of potential malignant transformations [4,9,10]. In other words, dyskeratosis congenita is a multi-organ-system disorder that needs regular follow-ups.…”

“…In many cases, the plaques are more obvious in the spring, but they show seasonal regression during summer or autumn. Corneal involvement can result in visual impairment and blindness [5,10,12]. Hereditary benign intraepithelial dyskeratosis is a benign lesion in the oral cavity; hence no treatment modality is needed unless a superimposed infection with candida occurs, which requires antifungal therapy.…”

Periocular dermatoses

“…Genodermatoses are inherited skin diseases often associated with disorders in multiple organs and many involve the periocular area ( Aravindha Babu et al, 2015 ). Xeroderma pigmentosum is an autosomal, recessive genodermatosis that is characterized by intense photosensitivity during early childhood and manifests with sunburns and freckling on sun-exposed areas of the skin.…”

Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease

“…First described by Bloch in 1926, and Sulzberger in 1928, incontinentia pigmenti (IP) is a rare X-linked genodermatosis [ 1 , 2 ], which name is related to the histological characteristics of the lesions in the third stage (or pigmentary stage) of the disease ( Tab.1 ), consisting in the melanin incontinence by melanocytes of the basal epidermal layer and by its presence in the superficial dermis.…”