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Experimental Dermatology May 2022Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP-associated FAM111B... (Review)
Review
Mutations in the human FAM111B gene are associated with a rare, hereditary multi-systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP-associated FAM111B gene mutations reported in thirty-six patients from five families globally. To investigate the clinical significance of these mutations, we summarized individual cases by clinical features and position of the reported FAM111B gene mutations as those within and outside the putative protease domain (MWPPD and MOPPD respectively). MWPPD cases had more clinical manifestations than MOPPD (25 versus 18). Although the most common clinical features of poikiloderma, alopecia and hypohidrosis overall occurred in 94%, 86% and 75% of all cases with no significant differences between the MOPPD and MWPPD group, less common features included life-threatening (pulmonary fibrosis 47% vs. 13%; liver abnormalities specifically cirrhosis 26% vs. 7%) and physically disabling conditions (myopathy 53% vs. 20%; tendon contracture 55% vs. 7%) were more common in MWPPD cases. Similarly, the only 2 cases of POIKTMP with fatal pancreatic cancers were both only in the MWPPD group. This review thus suggests that mutations within the putative protease domain of the FAM111B protein are associated with a broader range of clinical features and may predict increased POIKTMP severity and a poorer prognosis.
Topics: Cell Cycle Proteins; Humans; Mutation; Peptide Hydrolases; Severity of Illness Index; Skin Diseases, Genetic
PubMed: 35122327
DOI: 10.1111/exd.14537 -
Dermatology Practical & Conceptual Jan 2023Poikiloderma of Civatte (PC) is a common, acquired, chronic, benign poikiloderma of the neck and face, most commonly affecting peri-menopausal females. At the time of...
INTRODUCTION
Poikiloderma of Civatte (PC) is a common, acquired, chronic, benign poikiloderma of the neck and face, most commonly affecting peri-menopausal females. At the time of writing, few studies have been published regarding the dermoscopy of PC.
OBJECTIVE
To describe the dermoscopic picture of PC, so as to provide a clinico dermoscopic diagnosis and differential diagnosis for PC.
METHODS
Twenty-eight patients with PC, aged 26-73 years, of whom 19 females (67.86%) were evaluated by detailed history, clinical examination, and dermoscopic examination with hand-held dermoscope.
RESULTS
The reticular pattern was observed in 15 cases (53.6%); the white dot in 10 (35.7%); the non-specific in 9 (32.1%); and the combination of linear and dotted vessels in 8 (28.6%). Regarding local dermoscopic features, converging curved vessels were observed in 18 cases (64.3%); linear irregular vessels in 17 (60.7%); rhomboidal/polygonal vessels in 15 (53.6%); dotted/globular vessels in 10 (35.7%); white macules in 23 (82.1%); brown macules in 11 (39.3%); and whitish follicular plugs in 6 (21.4%).
CONCLUSIONS
The dermoscopic picture of PC is highly characteristic and corresponds well to both clinical and histological findings. Dermoscopy may assist clinical diagnosis, as well as the differentiation from other dermatoses of the neck and face, especially poikilodermas with guarded prognosis.
PubMed: 36892344
DOI: 10.5826/dpc.1301a7 -
Frontiers in Genetics 2022Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and...
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and only approximately 30 cases have been reported worldwide. Some patients develop interstitial pneumonia, which may lead to progressive pulmonary fibrosis and poor prognosis. However, no effective treatment for interstitial pneumonia associated with POIKTMP has been reported. Here, we report an autopsy case of POIKTMP, wherein interstitial pneumonia was improved by corticosteroids. A 44-year-old Japanese man was referred to our hospital due to poikiloderma, hypotrichosis, and interstitial pneumonia. He developed progressive poikiloderma and muscle weakness since infancy. He also had tendon contractures, short stature, liver cirrhosis, and interstitial pneumonia. Mutation analysis of FAM111B revealed a novel and heterozygous missense mutation, c.1886T > G (p(Phe629Cys)), through which we were able to diagnose the patient with POIKTMP. 3 years after the POIKTMP diagnosis, interstitial pneumonia had worsened. After 2 weeks of administrating 40 mg/day of prednisolone, his symptoms and lung shadows improved. However, he subsequently developed severe hepatic encephalopathy and eventually died of respiratory failure due to bacterial pneumonia and pulmonary edema. Autopsy revealed an unclassifiable pattern of interstitial pneumonia, as well as the presence of fibrosis and fatty degeneration in several organs, including the liver, kidney, skeletal muscle, heart, pancreas, and thyroid. We report a case of POIKTMP in which interstitial pneumonia was improved by corticosteroids, suggesting that corticosteroids could be an option for the treatment of interstitial pneumonia associated with this disease.
PubMed: 35601499
DOI: 10.3389/fgene.2022.870192 -
Der Hautarzt; Zeitschrift Fur... May 2017Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA... (Review)
Review
Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. No cure is available for these patients except complete protection from all types of UV radiation.
Topics: Antioxidants; Dermatology; Evidence-Based Medicine; Humans; Radiation Protection; Radiation-Protective Agents; Solar Energy; Sunlight; Sunscreening Agents; Treatment Outcome; Xeroderma Pigmentosum
PubMed: 28401271
DOI: 10.1007/s00105-017-3978-4 -
Indian Journal of Ophthalmology Jun 2020
Topics: Blister; Epidermolysis Bullosa; Humans; Periodontal Diseases; Photosensitivity Disorders
PubMed: 32461471
DOI: 10.4103/ijo.IJO_2261_19 -
Journal of Cosmetic Dermatology Apr 2020The search for clinical signs suggestive of diseases and medical analysis in works of art and portraits is also known as iconodiagnosis. It raises discussions about...
The search for clinical signs suggestive of diseases and medical analysis in works of art and portraits is also known as iconodiagnosis. It raises discussions about underlying diseases and about whether the artist intended to represent them. We assessed the frequency of cutaneous signs in paintings on display in the permanent collections of the Ateneum and Sinebrychoff Art Museums, Finnish National Gallery in Helsinki. The most common feature was facial redness. Redness was mainly located on the cheeks with variable intensity according to paintings. Facial redness may be related to stylistic features, to make-up of the sitter, or the painter intended to depict an individual in good health or a specific emotion. It may be also related to rosacea, a common feature in individuals with fair skin. Lupus was not evoked in any of the cases. Additional specific findings included mainly sun-exposed skin lesions such as sun tan or chronic poikiloderma, skin aging (Milian's citrine skin), naevi, keratosis pilaris rubra, and ear piercing. We report here some specificities of the skin conditions displayed in the Finnish National Gallery. Examining from a dermatological point of view, works of art gives to a museum visit a twist.
Topics: Finland; Humans; Medicine in the Arts; Paintings; Skin Diseases
PubMed: 31444888
DOI: 10.1111/jocd.13095 -
European Journal of Dermatology : EJD Jun 2017Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological... (Review)
Review
Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases. Emphasis is put on the point of view of the clinician dermatologist.
Topics: Blister; Epidermolysis Bullosa; Focal Adhesions; Humans; Periodontal Diseases; Photosensitivity Disorders; Skin Diseases
PubMed: 28690212
DOI: 10.1684/ejd.2017.3039 -
The Journal of Investigative Dermatology Feb 2019Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1 gene encoding t kindlin-1. Kindlin-1 localizes to focal adhesion and...
Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1 gene encoding t kindlin-1. Kindlin-1 localizes to focal adhesion and is known to contribute to the activation of integrin receptors. Most cases of Kindler syndrome show a reduction or complete absence of kindlin-1 in keratinocytes, resulting in defective integrin activation, cell adhesion, and migration. However, roles for kindlin-1 beyond integrin activation remain poorly defined. In this study we show that skin and keratinocytes from Kindler syndrome patients have significantly reduced expression levels of the EGFR, resulting in defective EGF-dependent signaling and cell migration. Mechanistically, we show that kindlin-1 can associate directly with EGFR in vitro and in keratinocytes in an EGF-dependent, integrin-independent manner and that formation of this complex is required for EGF-dependent migration. We further show that kindlin-1 acts to protect EGFR from lysosomal-mediated degradation. This shows a new role for kindlin-1 that has implications for understanding Kindler syndrome disease pathology.
Topics: Blister; Cell Line; Cell Movement; EGF Family of Proteins; Epidermolysis Bullosa; ErbB Receptors; Humans; Keratinocytes; Lysosomes; Membrane Proteins; Neoplasm Proteins; Periodontal Diseases; Photosensitivity Disorders; Proteolysis; Signal Transduction; Skin
PubMed: 30248333
DOI: 10.1016/j.jid.2018.08.020 -
PLOS Global Public Health 2023There is still a lack of research in Vietnam on the autoantibody profile of dermatomyositis (DM) and its association with clinical and subclinical characteristics....
There is still a lack of research in Vietnam on the autoantibody profile of dermatomyositis (DM) and its association with clinical and subclinical characteristics. Therefore, we conducted this study to investigate clinical and subclinical correlations with autoantibodies in DM patients. 72 DM patients at Vietnam National Hospital of Dermatology and Venereology (NHDV) from March 2019 to September 2021 were included in this cross-sectional study. Clinical manifestations and laboratory test results of the patients were obtained at the time of visit. Of these, 63 patients were tested for the presence of autoantibodies using an Immunoblot assay. Our findings show that the average age of patients was 41.7 years. The female-male ratio was 1.7:1. The most common skin and muscle manifestations were myalgia (79.2%), heliotrope rash (62.5%), shawl sign (61.1%), Gottron's sign (59.7%), muscle weakness (59.7%), Gottron's papule (52.8%), periungual telangiectasia (41.7%), V-sign (38.9%), poikiloderma (26.4%), periungual fissures (20.8%), Raynaud's phenomenon (15.3%). Among the 63 patients tested for autoantibodies, myositis-specific antibodies (MSAs) were found in 71.4% of the serum samples, and myositis-associated antibodies (MAAs) in 36.5%. Anti-TIF1γ antibody accounted for the highest percentage (28.6%), followed by anti-Ro52 (22.2%), anti-synthetase (17.5%), anti-Mi-2 and anti-MDA5 (both 14.3%). Anti-synthetase antibodies (ARS-Abs) showed a significant association with arthralgia, fever, and Raynaud's phenomenon, while anti-TIF1γ antibodies showed a strong association with V-sign and poikiloderma (p<0.05). Clinical features in dermatomyositis are heterogeneous. Our study results show some associations between clinical features and autoantibodies in patients with DM. The analysis of DM-related autoantibodies is clinically useful, will be essential for the approaches to diagnosis, and management of DM patients.
PubMed: 36962887
DOI: 10.1371/journal.pgph.0000979 -
JAAD Case Reports Apr 2020
PubMed: 32258293
DOI: 10.1016/j.jdcr.2020.01.020