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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 -
Indian Journal of Ophthalmology Oct 2017A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed... (Review)
Review
A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.
Topics: Diagnostic Techniques, Ophthalmological; Dry Eye Syndromes; Eyelid Diseases; Humans; Lubricant Eye Drops; Male; Meibomian Glands; Mouth Mucosa; Ophthalmologic Surgical Procedures; Rothmund-Thomson Syndrome; Young Adult
PubMed: 29044077
DOI: 10.4103/ijo.IJO_89_17 -
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 -
Cureus May 2022Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of...
Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. The mucosae genitourinary system is commonly affected. The urological manifestations include meatal stenosis, urethral stricture, phimosis, and scarring of the glans penis. Skin biopsy with genetic analysis is the gold standard for diagnosis. Genetic counseling and a multidisciplinary approach are the mainstays of treatment.
PubMed: 35676982
DOI: 10.7759/cureus.24758 -
Dermatology Online Journal Aug 2017Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It...
Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. We report a case of primary cutaneous amyloidosis in a 17-year-old boy with unusual pigmentation of various patterns (reticulate and diffuse pigmentation with mottling and rippling at places) and hypopigmented atrophic macules. Our patient also had nail, oral, and mucosal pigmentation that have not been described. Amyloid deposits were shown histopathologically in both hyperpigmented and hypopigmented macules.
Topics: Adolescent; Amyloidosis; Foot Dermatoses; Hand Dermatoses; Humans; Hyperpigmentation; Hypopigmentation; Keratosis; Male; Mouth Diseases
PubMed: 29469741
DOI: No ID Found -
Journal of Drugs in Dermatology : JDD Nov 2021Fractional laser treatment was introduced in 2004 as a non-invasive technique to treat sun-damaged and aging skin. Since then, numerous ablative and non-ablative...
BACKGROUND
Fractional laser treatment was introduced in 2004 as a non-invasive technique to treat sun-damaged and aging skin. Since then, numerous ablative and non-ablative photothermolysis technologies and devices have been introduced, increasing the options for clinicians and patients but also increasing the complexity regarding which system to use and the techniques to optimize outcomes. No two devices are the same and the user-manuals preset dosimetry does not address many clinical situations, which can create confusion for new and inexperienced users.
METHODS
An online survey addressing use of a 1550 nm /1927 nm dual wavelength, non-ablative, fractional laser was sent to eight (8) US board certified dermatologists with extensive experience in the use of the device. The survey included 39 questions, addressing experience, best practices and recommendations for use.
RESULTS
The survey data suggests that the device can be used to treat patients of all ages and skin types for indications including photoaging and photodamage, periorbital wrinkles, freckles, (ephelides), solar lentigines, poikiloderma, scarring due to acne or surgery. It can be used on both facial and non-facial areas, including neck, chest, hands, arms, abdomen, legs, and buttocks. Unexpected and adverse effects were rarely reported and those that did were mild and transient.
CONCLUSIONS
This position paper provides practical real-world guidelines resulting from a small survey of experienced users, for new and early uses of the novel 1550 nm /1927 nm dual wavelength, non-ablative, fractional laser. J Drugs Dermatol. 2021;20(11):1150-1157. doi:10.36849/JDD.6181.
Topics: Acne Vulgaris; Cicatrix; Hand; Humans; Laser Therapy; Lasers, Gas; Lasers, Solid-State; Skin Aging
PubMed: 34784135
DOI: 10.36849/jdd.6181 -
JAAD Case Reports Jun 2024
PubMed: 38741660
DOI: 10.1016/j.jdcr.2023.08.045 -
Frontiers in Immunology 2023Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis...
INTRODUCTION
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in and heterozygous pathogenic variants in , respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.
METHODS
Through informed consent and enrollment onto IRB-approved protocols (NCT01386437, NCT03206099) the patient underwent a comprehensive clinical evaluation at the NIH Clinical Center alongside exome sequencing, copy number variation analysis, autoantibody surveys, peripheral blood immunophenotyping, and salivary cytokine analyses.
RESULTS
We report the presentation and evaluation of a 9-year-old boy who was referred to the NIH Clinical Center with an APECED-like clinical phenotype that included the classic APECED dyad of CMC and hypoparathyroidism. He was found to meet clinical diagnostic criteria for POIKTMP featuring poikiloderma, tendon contractures, myopathy, and pneumonitis, and exome sequencing revealed a c.1292T>C heterozygous pathogenic variant in but no deleterious single nucleotide variants or copy number variants in .
DISCUSSION
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.
Topics: Male; Humans; DNA Copy Number Variations; Polyendocrinopathies, Autoimmune; Autoantibodies; Azathioprine; Phenotype; Cell Cycle Proteins
PubMed: 36875114
DOI: 10.3389/fimmu.2023.1133387