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The British Journal of Dermatology Jan 2019
Topics: Humans; Leukocyte Count; Male; Mutation; Neutropenia; Neutrophils; Phosphoric Diester Hydrolases; Skin Abnormalities; Young Adult
PubMed: 30604532
DOI: 10.1111/bjd.17206 -
Skin Appendage Disorders Aug 2017Scalp involvement is not directly evaluated in patients with dermatomyositis (DM). Therefore, the exact frequency of scalp dermatomyositis (SDM) and its clinical and...
BACKGROUND
Scalp involvement is not directly evaluated in patients with dermatomyositis (DM). Therefore, the exact frequency of scalp dermatomyositis (SDM) and its clinical and trichoscopic characteristics have been poorly described.
OBJECTIVE
The aim of this study was to determine the frequency and clinical and dermoscopic features of SDM in patients diagnosed with DM.
METHODS
We performed a descriptive prospective, cross-sectional observational study that included all patients diagnosed with DM at a Mexican academic institute over the course of a year.
RESULTS
Twenty-four out of 31 patients with DM had scalp involvement at clinical examination, with a prevalence of 77.4%. SDM was clinically characterized by erythema in all cases, scales in 20 (83.3%) patients, nonscarring alopecia in 21 (87.5%) patients, pruritus in 17 (70.8%) patients, and poikiloderma of the scalp in 16 (51.6%) patients. Twenty-eight patients were evaluated by trichoscopy. The most consistent finding was the presence of enlarged capillaries, found in 20 (71.4%) cases, followed by peripilar casts (57.1%) and tufting and interfollicular scales in 14 (50%) cases. Twenty-two patients also had positive nail fold capillaroscopic features similar to those observed by trichoscopy.
LIMITATIONS
The simple size was limited.
CONCLUSIONS
Scalp involvement and alopecia are common in patients with DM, and trichoscopy shows features similar to those found at capillaroscopy. Trichoscopy is a very important tool for diagnosis of scalp involvement in patients with DM.
PubMed: 28879187
DOI: 10.1159/000464469 -
Journal of Medical Case Reports Mar 2018Dermatomyositis is a humoral-mediated inflammatory myopathy with symmetrical proximal muscle weakness and dermatological manifestations such as Gottron's papules,...
BACKGROUND
Dermatomyositis is a humoral-mediated inflammatory myopathy with symmetrical proximal muscle weakness and dermatological manifestations such as Gottron's papules, heliotrope rash, periungual abnormalities, and flagellate erythema. Erythroderma is a severe and potentially life-threatening dermatological condition with diffuse erythema and scaling involving more than 90% of the skin surface area. Poikiloderma vasculare atrophicans refers to mottled hyperpigmentation and hypopigmentation of the skin with in-between telangiectases and areas of atrophy and is considered a variant of mycosis fungoides. Poikilodermatomyositis is the term given to the condition with poikiloderma and inflammatory myopathy. Only a few cases are reported on erythroderma in dermatomyositis and poikilodermatomyositis. Erythrodermal pattern of dermatomyositis transforming into poikilodermatomyositis is a recognized rare manifestation of dermatomyositis and we could find only one case report in the literature.
CASE PRESENTATION
A 53-year-old Sri Lankan woman presented with intermittent fever of 5 months' duration with erythroderma. Later she developed progressive, symmetrical proximal muscle weakness. Following a short course of small dose steroids, erythroderma settled but changed to extensive poikiloderma involving more than 90% of her skin with her face being relatively spared. She had an early heliotrope rash, shawl sign, and Gottron papules. Electromyography and muscle biopsy were supportive of inflammatory myositis and skin biopsy showed evidence of dermatomyositis. Inflammatory markers and muscle enzymes were also elevated. Autoimmune antibodies and myositis-specific autoantibodies were negative. She was started on orally administered prednisolone 1 mg/kg per day with methotrexate 10 mg once a week and had a good response to treatment with resolution of the skin condition and improvement of muscle power. Imaging studies, endoscopies, and tumor markers did not reveal any malignancy.
CONCLUSIONS
This case illustrates a rare presentation of dermatomyositis initially presenting as fever, erythroderma, and proximal muscle weakness and later developing poikiloderma involving more than 90% of the skin. It is important to be aware of this rare presentation to avoid misdiagnosis. With the currently available literature it is not possible to conclude that erythroderma is a bad prognostic factor in dermatomyositis or a predictive factor for a malignancy. Patients have a good response to steroids with a combination of immunosuppressants.
Topics: Dermatologic Agents; Dermatomyositis; Electromyography; Female; Fever; Humans; Methotrexate; Middle Aged; Muscle Weakness; Neutropenia; Prednisolone; Skin Abnormalities; Treatment Outcome
PubMed: 29571300
DOI: 10.1186/s13256-018-1618-y -
Cureus Dec 2023Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily...
Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily affects the skin and the skeletal muscles. Characteristic signs and symptoms include Gottron papules, heliotrope rash, calcinosis cutis, and symmetrical proximal muscle weakness. However, JDM presenting with generalized scaly poikeloderma is an unfamiliar presentation. Herein we report a 14-month-old female toddler presented with generalized progressive asymptomatic scaly mottled violaceous patches (poikilodermatous) that started when she was seven months old. Her lab results were unremarkable. She was diagnosed with poikilodermatous skin rash with a differential diagnosis of Amyopathic dermatomyositis, poikilodermatous genodermatosis, and patch-stage mycosis fungoides. She was prescribed moisturizer creams only. A year later, during a follow-up, she presented with a full picture of JDM, with a history of scaly poikilodermatous skin patches that became more widespread, frequent choking during oral intake, and not being able to stand and sit unsupported. Laboratory workup was significant for low WBC and hemoglobin counts, along with elevated CPK, LDH, ferritin, CRP, and ESR levels. MRI revealed the right anterior thigh and vastus lateralis subcutaneous edema. Therefore, the child was diagnosed and treated as a case of JDM.
PubMed: 38222200
DOI: 10.7759/cureus.50573 -
Der Hautarzt; Zeitschrift Fur... Oct 2018
Topics: Blister; Epidermolysis Bullosa; Humans; Periodontal Diseases; Photosensitivity Disorders; Pyoderma
PubMed: 30264319
DOI: 10.1007/s00105-018-4198-2 -
Pediatric Dermatology Jan 2023Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by... (Review)
Review
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity. FAM111B encodes a catalytic nuclear protein, expressed in many tissues, which contributes to impaired DNA repair affecting multiple systems. Specific inhibition of catalytic activity might be a future strategy to halt progression of this otherwise untreatable disease. Given the relentless progression of the disease, it would make sense to start such treatment as early as possible. In order to achieve this objective, children with suspected POIKTMP should therefore undergo early imaging of all relevant organ systems.
Topics: Humans; Pulmonary Fibrosis; Cell Cycle Proteins; Contracture; Mutation; Atrophy; Tendons; Phenotype
PubMed: 36102338
DOI: 10.1111/pde.15133 -
Medicine Jul 2018Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial...
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.
RATIONALE
Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complications, such as acro-osteolysis, keratitis, xerosis or poikiloderma, have been reported in FMD.
PATIENT CONCERNS
A 29-year-old mother and her 7-year-old daughter, both presented with congenital glaucoma, craniofacial dysmorphism, xerosis and poikiloderma, were admitted to our hospital in 2011. Additionally, the mother also suffered from acro-osteolysis, keratitis, camptodactyly of hands and metastatic cutaneous squamous cell carcinoma (SCC) which turned out to be fatal 5 years later. In 2017, keratitis and acro-osteolysis were noticed in the daughter as well. Radiography showed bowed long bones with thickening cortex, and distal phalangeal osteolysis.
DIAGNOSES
Whole genome sequencing (WGS) was conducted in 2016, resulting in 71491 single-nucleotide polymorphisms and 7616 indels shared by patients while the father was taken as control. A FLNA variant was classified likely pathogenic, supporting the diagnoses of FMD. In addition, though our patients' symptoms were highly consistent with xeroderma pigmentosum variant, a mild subtype of xeroderma pigmentosum (XP) with merely accumulated UV-induced lesions like xerosis and poikiloderma limited to sun-exposure sites, higher risks of cutaneous neoplasms and absence of classical XP features, WGS didn't find supportive genetical evidence, but 2 HERC2 variants were assigned highest suspicion in both XP and SCC by bioinformatical analyses.
INTERVENTIONS
Anti-inflammatory treatment, sunscreens and moisturizers were administered.
OUTCOMES
The daughter's cutaneous lesions developed slowly during the 6-year follow-up, but the keratitis seriously weakened her sight.
LESSONS
To our knowledge, it's the first report of cases carrying FMD, keratitis, xerosis, poikiloderma and acro-osteolysis simultaneously, and 3 likely pathogenic variants were identified. Whole genome/exon sequencing is recommended as a common test for patients with rare phenotypes.
Topics: Adult; Aftercare; Amputation, Surgical; Blindness; Carcinoma, Squamous Cell; Child; Fatal Outcome; Female; Filamins; Forehead; Humans; Lower Extremity; Mothers; Mutation; Nuclear Family; Osteochondrodysplasias; Polymorphism, Single Nucleotide; Skin Neoplasms; Whole Genome Sequencing
PubMed: 29995760
DOI: 10.1097/MD.0000000000011283 -
Journal of Cosmetic Dermatology Jan 2022Although many laser systems have been used in the treatment for Poikiloderma of Civatte (POC), there is no standard treatment guideline.
BACKGROUND
Although many laser systems have been used in the treatment for Poikiloderma of Civatte (POC), there is no standard treatment guideline.
OBJECTIVES
We aimed to present our data on the efficacy and safety of single-session pro-yellow laser treatment for POC.
METHODS
The study included 14 patients treated with pro-yellow laser (QuadroStarPRO YELLOW Asclepion Laser Technologies, Germany) between 2017 and 2019. Treatment had been applied in two passes during the same session; a general pass with 22 j/cm over the whole lesion, then, one more pass only on the telangiectatic lesions with 18 j/cm fluence. They were evaluated based on their pictures taken before and 4 weeks after the treatment and scored by a 4-item scoring in terms of the improvement (0:no change, 1:1%-25% mild, 2:26%-50% moderate, 3:51%-75% well, and 4:76%-100% excellent improvement).
RESULTS
The mean age of the patients (1 female, 13 males) was 59.64 ± 8.16 years. Five patients had Fitzpatrick-2 and 9 patients had Fitzpatrick-3 skin types. Six patients had mild, 8 patients had moderate improvement, one of them has been illustrated in Figure 1. Sixty-minute mild erythema was the only adverse effect observed.
CONCLUSIONS
We think that pro-yellow laser is a good treatment option for POC treatment. Repeated sessions are required for the complete healing of the lesions, while one single session has proved to be deficient. We observed that it was a quite safe treatment option, especially for the neck region, which was inclined to scarring and atrophy development.
Topics: Aged; Atrophy; Cicatrix; Female; Humans; Lasers; Lasers, Solid-State; Male; Middle Aged; Pigmentation Disorders; Treatment Outcome
PubMed: 34889036
DOI: 10.1111/jocd.14609 -
Indian Journal of Dermatology Nov 2014Familial poikiloderma-like cutaneous amyloidosis(FPLCA) is a rare, generalized but genetic dyschromic skin disorder characterized by amyloid deposits in dermis due to...
Familial poikiloderma-like cutaneous amyloidosis(FPLCA) is a rare, generalized but genetic dyschromic skin disorder characterized by amyloid deposits in dermis due to defective DNA repair secondary to sunlight damage. Clinically, it presents with diffuse brownish pigmentation with hypo-pigmented macules and many brownish scattered lichenoid papules with normal developmental milestones. The condition is autosomal dominant with incomplete penetrance. We are here reporting a rare familial case of FPLCA with a review of the literature.
PubMed: 25484425
DOI: 10.4103/0019-5154.143581 -
Scientific Reports Oct 2018Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence...
UNLABELLED
Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence similarity 111, member B (FAM111B) gene cause hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, a multisystem fibrotic condition with clinical similarities to SSc. This observation has established FAM111B as a candidate gene for SSc.
PATIENTS AND METHODS
Demographic and clinical characteristics of consenting adults with definite SSc were recorded. Blood DNA analysis was performed using the High-Resolution Melt technique, and samples with abnormal electropherograms were selected for Sanger sequencing to identify mutations. Ethnically-matched controls from the general South African population were used to verify the frequency of variants in FAM111B. Public databases such as 1000 Genomes and ExAC were also used to verify the frequency of variants in FAM111B.
RESULTS
Of 131 patients, 118 (90.1%) were female, and 78 (59.5%) were black Africans. Genetic analysis revealed two FAM111B genetic variants. The c.917 A > G variant (rs200497516) was found in one SSc patients, and one control, and was classified as a missense variant of unknown significance. The c.988 C > T variant (rs35732637) occurred in three SSc patients and 42/243 (17.3%) of healthy controls, and is a known polymorphism.
CONCLUSION
One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. In this cohort, FAM111B gene mutations are not associated with SSc.
Topics: Adult; Aged; Alleles; Biomarkers; Cell Cycle Proteins; Computational Biology; Cross-Sectional Studies; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Mutation; Phenotype; Radiography, Thoracic; Scleroderma, Systemic; Tomography, X-Ray Computed
PubMed: 30375432
DOI: 10.1038/s41598-018-34341-7