-
Indian Journal of Dermatology 2015This paper describes a typical case of poikiloderma vasculare atrophicans (PVA) in a 48-year-old female. Histologically, the features were suggestive of PVA with the...
This paper describes a typical case of poikiloderma vasculare atrophicans (PVA) in a 48-year-old female. Histologically, the features were suggestive of PVA with the absence of Pautrier's microabscess or atypical lymphoid cells. The biopsy specimen was positive for cluster of differentiation (CD) 8 on immunohistochemical staining. Its exact pathogenesis remains obscure, and it remains unclear whether PVA actually is mycosis fungoides (MF), a forme fruste of MF, or a distinct and benign dermatosis with CD8+ phenotype that can perhaps be labeled as PVA. However, it has a long benign clinical course without progression to tumor stage of MF in most cases, and its status within the spectrum of cutaneous T-cell lymphoma remains poorly understood. Yet it is imperative to distinguish PVA from poikilodermic MF.
PubMed: 25814753
DOI: 10.4103/0019-5154.152566 -
JAAD Case Reports Jun 2024
PubMed: 38741660
DOI: 10.1016/j.jdcr.2023.08.045 -
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 -
Journal of Medical Genetics Nov 2023Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I,...
Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in and juvenile cataracts, and type II, with biallelic variants in , increased cancer risk and no cataracts. We report on six Brazilian probands and two siblings of Swiss/Portuguese ancestry presenting with severe short stature, widespread poikiloderma and congenital ocular anomalies. Genomic and functional analysis revealed compound heterozygosis for a deep intronic splicing variant in trans with loss of function variants in , with reduction of the protein levels and impaired DNA double-strand break repair. The intronic variant is shared by all patients, as well as the Portuguese father of the European siblings, indicating a probable founder effect. Biallelic variants in were previously associated with microcephalic osteodysplastic primordial dwarfism. Although the individuals reported here present a similar growth pattern, the presence of poikiloderma and ocular anomalies is unique. Thus, we have broadened the phenotypical spectrum of mutations, incorporating clinical characteristics of RTS. Although a clear genotype-phenotype correlation cannot be definitively established at this moment, we speculate that the residual activity of the splicing variant allele could be responsible for the distinct manifestations of -related syndromes.
PubMed: 37055165
DOI: 10.1136/jmg-2022-109119 -
Archives Belges de Dermatologie Et de... Apr 1952
Topics: Atrophy; Connective Tissue Diseases; Parapsoriasis; Skin Diseases
PubMed: 13017620
DOI: No ID Found -
Archives of Dermatology and Syphilology Feb 1946
Topics: Atrophy; Parapsoriasis; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 21015864
DOI: No ID Found -
The British Journal of Dermatology and... Nov 1947
Topics: Rothmund-Thomson Syndrome
PubMed: 20270922
DOI: No ID Found -
Journal of Clinical Immunology Aug 2020Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is...
Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is characterized by early-onset poikiloderma and chronic neutropenia. Nail dystrophy, palmoplantar hyperkeratosis, hypogonadotropic hypogonadism, and recurrent infections can be associated with the disease. Herein, we present a 27-year-old Turkish male patient newly diagnosed as PN, Clericuzio-type after confirmation of a c.531delA (p.His179MetfsX86) homozygous deleterious mutation in exon 5 of the USB1 gene. The presented case highlights the importance of genetic testing for avoiding misdiagnosis based solely on clinical findings, as well as the benefit of a multi-disciplinary diagnostic approach, as he was initially misdiagnosed as Rothmund-Thompson syndrome and subsequently diagnosed as PN, Clericuzio-type at age 27 years.
Topics: Adult; DNA Mutational Analysis; Disease Susceptibility; Humans; Immunoglobulins; Lymphocyte Subsets; Male; Mutation; Neutropenia; Osteomyelitis; Phenotype; Phosphoric Diester Hydrolases; Radiographic Image Enhancement; Skin; Skin Abnormalities; Symptom Assessment
PubMed: 32620997
DOI: 10.1007/s10875-020-00815-5 -
Blood Feb 2013
Topics: Humans; Mutation; Neutropenia; Phosphoric Diester Hydrolases; RNA, Small Nuclear; Skin Abnormalities
PubMed: 23393019
DOI: 10.1182/blood-2012-12-471367 -
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