ichthyosis/gojaznost

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Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

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Background: A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and

[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].

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Atypical lymphangioma and hyperkeratosis in a patient with morbid obesity

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Lymphangioma is a rare and understudied pathology that is usually detected in the first decade of life, and its appearance in adults is rare. This report details a 51-year-old man with morbid obesity who presented, for the last eight months, multiple asymmetric tumor lesions with extension to the

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.

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Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a

Hidradenitis suppurrativa (acne inversa) as a systemic disease.

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Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic follicular occlusive skin disorder characterized by recurrent abscesses, draining sinuses, and scarring, with a multifactorial pathogenesis. The answer to the question whether HS may be considered a systemic disease relies on

XPC as breast cancer susceptibility gene: evidence from genetic profiling, statistical inferences and protein structural analysis

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Background: Gene polymorphisms that affect nucleotide excision repair (NER) pathway may link with higher susceptibility of breast cancer (BC); however, the significance of these associations may vary conferring to the individual

Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis.

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Hidradenitis suppurativa (HS), a pathologic follicular disease, impacts patients' lives profoundly and usually occurs in isolation. The diseases with the strongest association are obesity, depression, and pain. HS is associated with many diseases including acne conglobata (AC), dissecting

Symmetrical acral keratoderma revisited: proposal for a new term, 'pigmented carpotarsal hyperkeratosis'.

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First reported from Taiwan mistakenly as acral acanthosis nigricans in 1991, pigmented carpotarsal hyperkeratosis or hyperkeratosis nigricans carpi et tarsi displays a peculiar distribution of velvety brown-grey hyperpigmented plaques symmetrically on the flexural side of the wrists and ankles and

Inborn errors of cytoplasmic triglyceride metabolism.

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Triglyceride (TG) synthesis, storage, and degradation together constitute cytoplasmic TG metabolism (CTGM). CTGM is mostly studied in adipocytes, where starting from glycerol-3-phosphate and fatty acyl (FA)-coenzyme A (CoA), TGs are synthesized then stored in cytoplasmic lipid droplets. TG

Keratosis Pilaris

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Keratosis pilaris is among the most common dermatologic conditions and can be considered a normal variant. It is the most common follicular keratosis. The condition is multifactorial and innocuous, affecting the extensor surfaces of the proximal extremities. Keratosis pilaris first appears in early

Fatty acid transport proteins, implications in physiology and disease.

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Uptake of long-chain fatty acids plays pivotal roles in metabolic homeostasis and human physiology. Uptake rates must be controlled in an organ-specific fashion to balance storage with metabolic needs during transitions between fasted and fed states. Many obesity-associated diseases, such as insulin

Ablation of XP-V gene causes adipose tissue senescence and metabolic abnormalities.

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Obesity and the metabolic syndrome have evolved to be major health issues throughout the world. Whether loss of genome integrity contributes to this epidemic is an open question. DNA polymerase η (pol η), encoded by the xeroderma pigmentosum (XP-V) gene, plays an essential role in preventing

The Risk of Cancer in Patients With Psoriasis: A Population-Based Cohort Study in the Health Improvement Network.

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OBJECTIVE The risk of cancer in patients with psoriasis remains a cause of special concern due to the chronic inflammatory nature of the disease, the use of immune-suppressive treatments and UV therapies, and the increased prevalence of comorbid, well-established risk factors for cancer, such as

CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis

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Comparative gene identification-58 (CGI-58), also known as α/β-hydrolase domain-containing 5 (ABHD5), is a member of a large family of proteins containing an α/β-hydrolase-fold. CGI-58 is well-known as the co-activator of adipose triglyceride lipase (ATGL), which is a key enzyme initiating cytosolic

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