-
Frontiers in Genetics 2023
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
PubMed: 38188503
DOI: 10.3389/fgene.2023.1255807 -
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 -
The American Journal of Pathology Jun 1978This clinicopathologic study of patients with chronic graft-versus-host disease (GVHD) after allogeneic marrow transplantation emphasizes the most prominent feature of...
This clinicopathologic study of patients with chronic graft-versus-host disease (GVHD) after allogeneic marrow transplantation emphasizes the most prominent feature of the syndrome, the cutaneous aspects, and describes the ophthalmic-oral sicca syndrome with sialoadenitis and the neurologic findings. Chronic cutaneous GVHD affected 19 of 92 recipients surviving 150 days or more. In 6 patients chronic GVHD presented as a continuation of acute GVHD; in 8 it occurred after the resolution of acute GVHD; and in 5 it arose without preceding acute GVHD, ie, de novo late onset. Two cutaneous types were distinguished. The generalized type affected 16 patients and ran a progressive course resulting in late complications of poikiloderma, diffuse dermal and subcutaneous fibrosis, and contractures. Microscopically, it resembled generalized morphea and lupus erythermatosus hypertrophicus et profundus. The local type affected 3 patients with a more variable picture of poikiloderma, dermal sclerosis, and contractures. Microscopically, it resembled lupus of erythematosus profundus and scleroderma. Guidelines for defining and subclassifying chronic cutaneous GVHD are proposed.
Topics: Adolescent; Adult; Bone Marrow Transplantation; Child; Child, Preschool; Chronic Disease; Contracture; Female; Graft vs Host Disease; Graft vs Host Reaction; Humans; Male; Neurologic Manifestations; Oral Manifestations; Sialadenitis; Skin; Skin Manifestations; Transplantation, Homologous
PubMed: 26221
DOI: No ID Found -
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 -
Indian Journal of Dermatology Nov 2014Subacute cutaneous lupus erythematosus (SCLE) is a type of lupus erythematosus having distinct characteristic clinical, serologic, and genetic features. Other than the...
Subacute cutaneous lupus erythematosus (SCLE) is a type of lupus erythematosus having distinct characteristic clinical, serologic, and genetic features. Other than the commonly occurring papulosquamous and annular polycyclic lesion, rarely it may present as erythema multiformae, toxic epidermo necrolysis like lesion (Rowell syndrome), erythroderma, and generalized poikiloderma. Herein, we report a case of SCLE presenting as erythroderma.
PubMed: 25484433
DOI: 10.4103/0019-5154.143589 -
Boletin Medico Del Hospital Infantil de... 2022Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a...
BACKGROUND
Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level.
CASE REPORTS
Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed.
CONCLUSIONS
Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.
Topics: Adult; Child; Child, Preschool; Female; Hospitals, Pediatric; Humans; Male; Mexico; Mutation; Rothmund-Thomson Syndrome
PubMed: 35086131
DOI: 10.24875/BMHIM.21000013 -
Human Molecular Genetics Aug 2017Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk...
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling. We show that individuals with RTS have decreased areal bone mineral density. Additionally, we demonstrate that the presence of pathogenic variants in RECQL4 and low bone mineral density correlate with the history of increased risk of fractures. Using a RECQL4-deficient mouse model that recapitulates skeletal abnormalities seen in individuals with RTS, we demonstrate that generalized skeletal involvement is likely due to decreased osteogenesis. Our findings are clinically relevant as they may help in the risk stratification of patients with RTS and also in the identification of individuals who may benefit from additional surveillance and management of metabolic bone disease.
Topics: Adult; Animals; Bone Density; Bone Remodeling; Child; Child, Preschool; Female; Fractures, Bone; Humans; Male; Mice; Mutation; Osteogenesis; RecQ Helicases; Risk Factors; Rothmund-Thomson Syndrome
PubMed: 28486640
DOI: 10.1093/hmg/ddx178 -
Pediatric Dermatology Jul 2022Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although...
Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.
Topics: Connective Tissue Diseases; Homozygote; Humans; Mutation; Neutropenia; Phosphoric Diester Hydrolases; Skin Abnormalities
PubMed: 35522049
DOI: 10.1111/pde.15007 -
Indian Journal of Dermatology,... 2021Mycosis fungoides is the most common form of cutaneous T-cell lymphoma. Narrowband ultraviolet B and psoralen and ultraviolet A are effective treatment options, but...
BACKGROUND
Mycosis fungoides is the most common form of cutaneous T-cell lymphoma. Narrowband ultraviolet B and psoralen and ultraviolet A are effective treatment options, but studies of their treatment efficacy and disease relapse remain limited.
OBJECTIVES
This study aimed (1) to determine the efficacy of narrowband ultraviolet B and psoralen and ultraviolet A as a treatment for early-stage mycosis fungoides and explore the predictive factors for complete remission and (2) to determine the relapse rate and analyze their predictive factors, including the utility of maintenance therapy.
METHODS
This was a retrospective cohort study consisting of 61 patients with early-stage mycosis fungoides (IA - IB) treated with narrowband ultraviolet B or psoralen and ultraviolet A as the first-line therapy from January 2002 to December 2018 at the Division of Dermatology, Ramathibodi Hospital, Bangkok, Thailand. Cox regression analysis and Kaplan-Meier survival curve were performed for the main outcomes.
RESULTS
A complete remission was achieved by 57 (93.5%) patients. The median time to remission was 7.80 ± 0.27 months. Types of phototherapy (narrowband ultraviolet B or psoralen and ultraviolet A), age and gender did not associate with time to remission, while the presence of poikiloderma and higher disease stage led to a longer time to remission. The cumulative incidence of relapse was 50.8%. The median time to relapse was 24.78 ± 5.48 months. In patients receiving phototherapy during the maintenance period, a treatment duration longer than six months was associated with a significantly longer relapse-free interval.
CONCLUSION
Narrow-band-ultraviolet B and psoralen and ultraviolet A are effective treatment options for early-stage mycosis fungoides. Maintenance treatment by phototherapy for at least six months seems to prolong remission.
Topics: Adult; Female; Ficusin; Glucocorticoids; Humans; Male; Mycosis Fungoides; Neoplasm Recurrence, Local; Photosensitizing Agents; Phototherapy; Remission Induction; Retrospective Studies; Skin Neoplasms
PubMed: 33871205
DOI: 10.25259/IJDVL_555_19