-
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 -
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 -
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 -
JAAD Case Reports Apr 2020
PubMed: 32258293
DOI: 10.1016/j.jdcr.2020.01.020 -
Journal of Cosmetic Dermatology Jun 2023Vascular lesions of the lower extremities and face, such as varicose veins and telangiectasias, are a common dilemma for the dermatologist. In recent years, laser...
INTRODUCTION
Vascular lesions of the lower extremities and face, such as varicose veins and telangiectasias, are a common dilemma for the dermatologist. In recent years, laser therapy has emerged as a viable treatment option for these vascular anomalies.
MATERIALS AND METHODS
Although there are several types of lasers, the 1064-nm Nd:YAG in particular is popularly selected for its safety profile and versatility. The longer 1064 nm wavelength penetrates deeper into the skin while also being less absorbed by hemoglobin and melanin, thus resulting in minimized damage to surrounding structures and less pigmentation changes. The new LP1064 applicator on the Harmony XL Pro Device is one such laser.
RESULTS
Numerous publications have corroborated the efficacy of 1064 nm Nd:YAG lasers. These studies cite at least over 75% of patients experiencing significant improvement in common vascular lesions. Efficacy of this laser is also seen for other vascular lesions such as port wine stains, hemangiomas, venous lakes, poikiloderma of Civatte, and angiokeratomas. Overall, the reported studies also show a low incidence of adverse events.
CONCLUSION
The 1064 nm Nd:YAG laser, such as the Harmony LP1064 applicator, is a safe and effective tool to treat vein anomalies of the face and leg. Although commonly used for vein ablation, it has demonstrated a robust response in other indications as well.
Topics: Humans; Telangiectasis; Veins; Port-Wine Stain; Laser Therapy; Low-Level Light Therapy; Lasers, Solid-State; Treatment Outcome
PubMed: 37318789
DOI: 10.1111/jocd.15756 -
British Journal of Haematology Feb 2024The clinical problem of a non-healing fistula in ano in a child affected with poikiloderma with neutropenia (PN) was the stimulus for an innovative study by Parajuli...
The clinical problem of a non-healing fistula in ano in a child affected with poikiloderma with neutropenia (PN) was the stimulus for an innovative study by Parajuli et al. that sheds light on the pathological mechanisms in this disease. Multiparametric analyses of the patient's blood mononuclear cells by cell culture, flow cytometry and multiplex cytokine assay suggested a block of monocyte differentiation. Monocyte transcriptome profiling revealed a signature consistent with the haematological picture and the clinical presentation. Commentary on: Parajuli et al. Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type. Br J Haematol 2024;204:683-693.
Topics: Child; Humans; Skin Abnormalities; Neutropenia; Monocytes; Mutation; Phosphoric Diester Hydrolases
PubMed: 37932156
DOI: 10.1111/bjh.19184 -
The Journal of Dermatology Oct 2021Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer...
Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS. Either Sanger sequencing or next-generation sequencing (NGS) was performed for three Chinese RTS patients. Copy number variants were called by the eXome-Hidden Markov Model using read-depth data of NGS, and the putative heterozygous deletion was confirmed by PCR with multiple primers. The breakpoints were identified by Sanger sequencing. All patients presented with characteristic features of poikiloderma, short stature, and sparse hair, eyelashes, and eyebrows. In addition, patient 1 had intellectual disability and speech delay, and patient 2 developed osteosarcoma when she was 13 years old. Biallelic RECQL4 variants were identified in all three patients. Five of the six variants were novel, including c.119-1G>A, c.2886-1G>A, c.2290C>T (p.Gln764*), and c.3552dupG (p.Arg1185Glufs*42), and a gross deletion encompassing exons 6 to 10. Our study expands the genetic and clinical spectrums of RTS. Furthermore, we reported the first heterozygous gross deletion in RECQL4.
Topics: Adolescent; Bone Neoplasms; China; Female; Humans; Mutation; Osteosarcoma; RecQ Helicases; Rothmund-Thomson Syndrome
PubMed: 34155702
DOI: 10.1111/1346-8138.16015 -
American Journal of Medical Genetics.... Jan 2021A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin...
A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows. Total leucocyte count and absolute neutrophil count were 3720/mm3 and 420/mm3 respectively. The neutropenia was not cyclical. Systematic analysis of the whole exome data revealed a homozygous mutation in USB1 gene; chr16:g.58043892TA>-[1/1]. A final diagnosis of poikiloderma with neutropenia- Clericuzio type (PNC) was made. Naegeli Franceschetti Jadassohn, dermatopathia pigmentosa reticularis, PNC and dyskeratosis congenita, all can present with overlapping cutaneous manifestations. Subtle clinical details like thickened nails, hyperextensible joints, calcinosis cutis, characteristic facies and a preceding erythematopapular rash strongly favor the diagnosis of PNC. The index case highlights two novel findings: obliterated dermatoglyphics and mucin deposition (features not described hitherto in PNC).
Topics: Adolescent; Diagnosis, Differential; Dyskeratosis Congenita; Humans; Hyperpigmentation; Male; Mucins; Mutation; Neutropenia; Pedigree; Phosphoric Diester Hydrolases; Skin Abnormalities; Skin Pigmentation
PubMed: 33111394
DOI: 10.1002/ajmg.a.61943