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International Journal of Dermatology May 1978Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so...
Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. Investigational studies included a blood chemistry screen, chromosome analyses, and skin biopsies evaluated by routine stains as well as by electron microscopy and direct immunofluorescence. No mechanism for the production of the clinical and histological changes in the dominantly inherited disorder was found.
Topics: Adolescent; Child; Diagnosis, Differential; Humans; Male; Rothmund-Thomson Syndrome; Skin; Skin Diseases
PubMed: 659034
DOI: 10.1111/j.1365-4362.1978.tb06085.x -
Archives of Dermatology May 1971
Topics: Atrophy; Humans; Male; Middle Aged; Mycosis Fungoides; Pigmentation Disorders; Precancerous Conditions; Skin Diseases; Skin Neoplasms; Telangiectasis
PubMed: 5580306
DOI: 10.1001/archderm.103.5.550 -
Acta Dermato-venereologica 1950
Topics: Atrophy; Connective Tissue Diseases; Myositis; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 15432043
DOI: No ID Found -
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 -
Frontiers in Aging 2023Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short... (Review)
Review
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in the gene, which encodes a DNA helicase involved in DNA replication and repair, three additional genes have been recently identified in RTS: , encoding a subunit of the APC/C complex; which encodes a nuclease/helicase involved in DNA repair; and , encoding a poorly characterized protein implicated in excitatory synapse formation and splicing. Here, we review the clinical spectrum of RTS patients, analyze the genetic basis of the disease, and discuss molecular functions of the affected genes, drawing some novel genotype-phenotype correlations and proposing avenues for future studies into this enigmatic disorder.
PubMed: 38021400
DOI: 10.3389/fragi.2023.1296409 -
Canadian Medical Association Journal Jun 1954
Topics: Humans; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 13160909
DOI: No ID Found -
Archives of Dermatology and Syphilology Jul 1949
Topics: Connective Tissue Diseases; Humans; Lichen Planus; Lichens; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 18145557
DOI: No ID Found -
Orphanet Journal of Rare Diseases Jan 2010Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse... (Review)
Review
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the literature so far. The diagnostic hallmark is facial erythema, which spreads to the extremities but spares the trunk, and which manifests itself within the first year and then develops into poikiloderma. Two clinical subforms of RTS have been defined: RTSI characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, and RTSII characterised by poikiloderma, congenital bone defects and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose and congenital radial ray defects), and/or subtle (visible only by radiographic analysis). Gastrointestinal, respiratory and haematological signs have been reported in a few patients. RTS is transmitted in an autosomal recessive manner and is genetically heterogeneous: RTSII is caused by homozygous or compound heterozygous mutations in the RECQL4 helicase gene (detected in 60-65% of RTS patients), whereas the aetiology in RTSI remains unknown. Diagnosis is based on clinical findings (primarily on the age of onset, spreading and appearance of the poikiloderma) and molecular analysis for RECQL4 mutations. Missense mutations are rare, while frameshift, nonsense mutations and splice-site mutations prevail. A fully informative test requires transcript analysis not to overlook intronic deletions causing missplicing. The diagnosis of RTS should be considered in all patients with osteosarcoma, particularly if associated with skin changes. The differential diagnosis should include other causes of childhood poikiloderma (including dyskeratosis congenita, Kindler syndrome and Poikiloderma with Neutropaenia), other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, Werner syndrome and Ataxia-telangiectasia) and the allelic disorders, RAPADILINO syndrome and Baller-Gerold syndrome, which also share some clinical features. A few mutations recur in all three RECQL4 diseases. Genetic counselling should be provided for RTS patients and their families, together with a recommendation for cancer surveillance for all patients with RTSII. Patients should be managed by a multidisciplinary team and offered long term follow-up. Treatment includes the use of pulsed dye laser photocoagulation to improve the telangiectatic component of the rash, surgical removal of the cataracts and standard treatment for individuals who develop cancer. Although some clinical signs suggest precocious aging, life expectancy is not impaired in RTS patients if they do not develop cancer. Outcomes in patients with osteosarcoma are similar in RTS and non-RTS patients, with a five-year survival rate of 60-70%. The sensitivity of RTS cells to genotoxic agents exploiting cells with a known RECQL4 status is being elucidated and is aimed at optimizing the chemotherapeutic regimen for osteosarcoma.
Topics: Frameshift Mutation; Humans; RecQ Helicases; Rothmund-Thomson Syndrome
PubMed: 20113479
DOI: 10.1186/1750-1172-5-2 -
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 -
Anais Brasileiros de Dermatologia 2014Cutaneous hyperpigmentations are frequent complaints, motivating around 8.5% of all dermatological consultations in our country. They can be congenital, with different... (Review)
Review
Cutaneous hyperpigmentations are frequent complaints, motivating around 8.5% of all dermatological consultations in our country. They can be congenital, with different patterns of inheritance, or acquired in consequence of skin problems, systemic diseases or secondary to environmental factors. The vast majority of them are linked to alterations on the pigment melanin, induced by different mechanisms. This review will focus on the major acquired hyperpigmentations associated with increased melanin, reviewing their mechanisms of action and possible preventive measures. Particularly prominent aspects of diagnosis and therapy will be emphasized, with focus on melasma, post-inflammatory hyperpigmentation, periorbital pigmentation, dermatosis papulosa nigra, phytophotodermatoses, flagellate dermatosis, erythema dyschromicum perstans, cervical poikiloderma (Poikiloderma of Civatte), acanthosis nigricans, cutaneous amyloidosis and reticulated confluent dermatitis.
Topics: Diagnosis, Differential; Female; Humans; Hyperpigmentation; Male; Melanins; Skin; Skin Diseases
PubMed: 24626644
DOI: 10.1590/abd1806-4841.20142353