جستجوی مقالات مرتبط با کلیدواژه « genodermatosis » در نشریات گروه « پزشکی »

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracranium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness.

Ichthyoses as epidermal genodermatoses are a large group of keratinization disorders that affect the entire integument, which is typically characterized by visible scaling and inflammation on the skin. Nowadays, in addition to clinical criteria, new molecular diagnostic methods, such as next-generation sequencing, can help to differentiate the subgroups of ichthyoses more precisely. These disorders are mostly classified based on clinical and histologic features and molecular markers. Inherited ichthyoses were divided into two groups: non-syndromic ichthyosis and syndromic ichthyosis. Non-syndromic ichthyosis is a group of various skin diseases with genetic and clinical heterogeneity. In this group, ichthyosis vulgaris and recessive X-linked ichthyosis are common and are often of delayed onset. Correct diagnosis of the molecular defects resulted from ichthyosis is useful for the prediction of the prognosis, genetic counseling (accurate risk assessment), prenatal diagnosis, and a better understanding of skin biology. However, the most essential and promising advantage of a precise molecular diagnosis is using gene therapy for its treatment, which may be considered as a subcategory of personalized medicine. This review is focused on the different aspects of non-syndromic ichthyoses pathophysiology.

Background H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia.
Case Presentation Here we have presented two cases of H syndrome that have been misdiagnosed and mismanaged as rheumatologic disease. The first case had been represented with sclerotic skin lesions and diagnosed as morphea, and second one with chronic and recalcitrant to treatment arthritis as juvenile idiopathic arthritis.
Conclusion H syndrome is an autosomal recessive genodermatosis that has been recently recognized with a variety of manifestations and overlapping features with other diseases. Increase the knowledge of physicians for wide spectrum manifestations of this syndrome along with reporting the misdiagnosis of this condition can increase the accuracy of physicians for its better identification. This time our cases masquerade as rheumatologic diseases.

Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequently reported since. Here we present a case of KS with classic clinical presentations involving skin, mucous membranes, and the periodontium in a patient from Iran.

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein، the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation، reticulate pigmentations، telangiectasia، and skeletal defects.