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1.
J Am Acad Dermatol ; 87(3): 573-581, 2022 09.
Article in English | MEDLINE | ID: mdl-35551965

ABSTRACT

BACKGROUND: There is variation in the outcomes reported in clinical studies of basal cell carcinoma. This can prevent effective meta-analyses from answering important clinical questions. OBJECTIVE: To identify a recommended minimum set of core outcomes for basal cell carcinoma clinical trials. METHODS: Patient and professional Delphi process to cull a long list, culminating in a consensus meeting. To be provisionally accepted, outcomes needed to be deemed important (score, 7-9, with 9 being the maximum) by 70% of each stakeholder group. RESULTS: Two hundred thirty-five candidate outcomes identified via a systematic literature review and survey of key stakeholders were reduced to 74 that were rated by 100 health care professionals and patients in 2 Delphi rounds. Twenty-seven outcomes were provisionally accepted. The final core set of 5 agreed-upon outcomes after the consensus meeting included complete response; persistent or serious adverse events; recurrence-free survival; quality of life; and patient satisfaction, including cosmetic outcome. LIMITATIONS: English-speaking patients and professionals rated outcomes extracted from English language studies. CONCLUSION: A core outcome set for basal cell carcinoma has been developed. The use of relevant measures may improve the utility of clinical research and the quality of therapeutic guidance available to clinicians.


Subject(s)
Carcinoma, Basal Cell , Skin Neoplasms , Carcinoma, Basal Cell/therapy , Delphi Technique , Humans , Quality of Life , Research Design , Skin Neoplasms/therapy , Treatment Outcome
2.
J Drugs Dermatol ; 18(5): 481-482, 2019 May 01.
Article in English | MEDLINE | ID: mdl-31141859

ABSTRACT

Superficial repair after excisions helps to optimize cosmetic outcomes. Possibly due to how wound closures are traditionally taught in dermatology, simple interrupted or continuous sutures are overwhelmingly favored by dermatologic surgeons in superficial repair, especially on cosmetically sensitive areas such as face and ears. However, this repair method risks wound overgrowth around the points where the suture traverses through the epidermis, and long-term postsurgical healing frequently leaves behind scars with 'railroad track' suture marks rather than a fine line. Here, we present buried intradermal running suture technique as an alternative superficial repair method compared to the simple interrupted or running suture techniques. We demonstrate the superior cosmetic outcome offered by buried intradermal suture with 2 patient cases, who had defects on the temple and shin. While dermatologists can now offer energy-based devices and neuromodulators to improve cosmesis, our approach helps optimize scar appearance so that patients can have the best possible surgical outcome without necessitating further interventions. J Drugs Dermatol. 2019;18(5):481-482.


Subject(s)
Carcinoma, Squamous Cell/surgery , Melanoma/surgery , Skin Neoplasms/surgery , Adult , Aged , Carcinoma, Squamous Cell/pathology , Dermatologic Surgical Procedures , Female , Forehead , Humans , Leg , Male , Melanoma/pathology , Skin Neoplasms/pathology , Subcutaneous Tissue , Suture Techniques
3.
J Drugs Dermatol ; 16(4): 329-331, 2017 Apr 01.
Article in English | MEDLINE | ID: mdl-28403266

ABSTRACT

Photodynamic therapy (PDT) uses a topical photosensitizing agent which is activated by a light source to cause destruction of specific cells. Commonly used for the treatment of actinic keratoses and photodamage, PDT can also be used for other conditions including acne and sebaceous hyperplasia. Here we report our experience with two treatment protocols. The first protocol utilizes laser assisted delivery of topical 5-aminolevulinic acid for enhanced efficacy of blue light photodynamic therapy in the treatment of actinic keratoses and photodamage. The second protocol utilizes red light photodynamic therapy followed by pulsed dye laser to effectively target sebaceous glands in patients with extensive sebaceous hyperplasia.

J Drugs Dermatol. 2017;16(4):329-331.

.


Subject(s)
Aminolevulinic Acid/therapeutic use , Dermatitis, Phototoxic/therapy , Keratosis, Actinic/therapy , Lasers, Dye/therapeutic use , Low-Level Light Therapy/methods , Photochemotherapy/methods , Photosensitizing Agents/therapeutic use , Sebaceous Glands/radiation effects , Administration, Cutaneous , Aged , Clinical Protocols , Female , Humans , Lasers, Semiconductor , Male , Middle Aged , Sebaceous Glands/pathology , Treatment Outcome
4.
J Drugs Dermatol ; 13(5): 598-600, 2014 May.
Article in English | MEDLINE | ID: mdl-24809886

ABSTRACT

Necrobiotic xanthogranuloma (NXG) is an uncommon granulomatous disorder of unknown pathogenesis that often presents with yellowish plaques in a periorbital distribution. While a majority of cases are associated with an underlying paraproteinemia of the IgG kappa type, a much smaller number are found to be associated with an underlying multiple myeloma. We present a case of a 78-year-old male with an isolated lesion of NXG on his right upper extremity. Following his diagnosis of NXG, further investigation for underlying systemic disorders with serum immunofixation revealed a monoclonal IgG kappa immunoglobulin with an M-spike of 1.2 g/dL. A PET-CT demonstrated bone destruction in the left proximal fifth rib, left scapula, the anterior lumbar I (L1) vertebrae, the left lumbar III (L3) vertebrae posterior elements and possibly left sacrum. A bone marrow biopsy revealed 18 % plasma cells. With these findings he was diagnosed with stage I multiple myeloma. Though clinically unimpressive and atypical in location for NXG, early biopsy and diagnosis of this solitary lesion led to the discovery of his hematopoietic disorder.


Subject(s)
Immunoglobulin G/immunology , Multiple Myeloma/diagnosis , Necrobiotic Xanthogranuloma/etiology , Aged , Biopsy , Humans , Immunoglobulin kappa-Chains/immunology , Male , Multiple Myeloma/complications , Multiple Myeloma/pathology , Necrobiotic Xanthogranuloma/diagnosis , Necrobiotic Xanthogranuloma/pathology , Neoplasm Staging , Positron-Emission Tomography/methods , Tomography, X-Ray Computed/methods , Upper Extremity
5.
J Am Acad Dermatol ; 68(1): 98-102, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23041112

ABSTRACT

BACKGROUND: Actinic keratoses (AK) are precancerous epidermal proliferations commonly present on chronically sun-damaged skin. These lesions are among the most often treated dermatologic conditions. OBJECTIVE: We sought to investigate the 6-month safety, tolerance, and efficacy of nonablative 1927-nm fractional resurfacing of facial AK. METHODS: This was a prospective clinical trial of 24 individuals with facial photodamage and AK receiving up to 4 treatments with the fractionated 1927-nm nonablative thulium laser. RESULTS: At 6 months, an 86.6% reduction in absolute number of lesions was noted by independent physician assessment. In addition, at this same time point, patients reported marked or noticeable improvement in overall photodamage. LIMITATIONS: This prospective study does not provide safety, tolerance, and efficacy data beyond 6 months of follow-up, nor does it identify the precise mechanism of action involved in AK clearance after 1927-nm resurfacing. CONCLUSION: The clinical and histologic findings, as well as the reported patient satisfaction and safety, suggest that the treatment of AK and photodamage with a fractionated 1927-nm nonablative thulium laser is a promising new therapeutic option.


Subject(s)
Facial Dermatoses/surgery , Keratosis, Actinic/surgery , Laser Therapy/methods , Edema/etiology , Erythema/etiology , Female , Humans , Laser Therapy/adverse effects , Male , Middle Aged , Thulium , Treatment Outcome
6.
J Drugs Dermatol ; 12(10): 1181-3, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24085057

ABSTRACT

We report a case of a 36-year-old female who experienced significant vascular occlusion after injection with hyaluronic acid into the nasolabial folds. The patient experienced immediate pain after the injection, however, the vascular compromise was not diagnosed and treated until 48 hours later. The patient suffered tissue damage despite treatment with hyaluronidase, hyperbaric oxygen, nitropaste, and aspirin. The case highlights the importance of proper injection technique by a qualified physician, as well as the need for immediate recognition and treatment of vascular occlusion should it occur.


Subject(s)
Cosmetic Techniques/adverse effects , Hyaluronic Acid/adverse effects , Vascular Diseases/etiology , Adult , Aspirin/therapeutic use , Female , Humans , Hyaluronic Acid/administration & dosage , Hyaluronoglucosaminidase/therapeutic use , Hyperbaric Oxygenation , Injections, Intradermal , Nasolabial Fold , Necrosis , Pain/etiology , Skin Diseases/etiology , Skin Diseases/therapy , Vascular Diseases/diagnosis , Vascular Diseases/pathology
7.
J Am Acad Dermatol ; 67(5): 985-90, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22342327

ABSTRACT

BACKGROUND: Port-wine stains (PWS) affect 0.3% to 0.5% of newborns and pulsed dye laser (PDL) remains the treatment of choice. Optimal treatment intervals have not been established. OBJECTIVE: We sought to validate the optimal treatment intervals for the management of facial PWS with PDL. METHODS: In all, 24 infants with facial PWS who received at least 5 treatments with the PDL at 2-, 3-, and 4-week intervals at a private laser and skin surgery center from 2009 to 2010 were identified by a retrospective chart review. Safety and efficacy were compared by blinded investigators. RESULTS: Side effects were equivalent in all interval groups and included only expected short-term erythema, edema, purpura, and mild postinflammatory hyperpigmentation. No patient developed hypopigmentation, scarring, or infection. All interval groups showed 50% to 100% clearance of their PWS after 5 treatments. Complete or near-complete clearance was seen in 6 of 8 (75%) and 7 of 8 (87.5%) patients in the 2- and 3-week interval groups, respectively, as compared with 3 of 8 (37.5%) patients in the 4-week interval group. LIMITATIONS: This was a retrospective chart review from a single institution. Long-term side effects and recurrence rates were not assessed. CONCLUSION: We conclude that PDL treatments at 2-, 3-, and 4-week intervals are effective for the management of facial PWS in infants with minimal short-term side effects. Shorter treatment intervals may allow for relatively more rapid and more effective treatment.


Subject(s)
Lasers, Dye/therapeutic use , Port-Wine Stain/surgery , Face , Female , Humans , Infant , Infant, Newborn , Male , Retreatment/methods , Retrospective Studies , Treatment Outcome
8.
Dermatol Surg ; 38(2): 240-8, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22212027

ABSTRACT

BACKGROUND: Dermatologic surgeons perform numerous procedures that put them at risk of developing work-related musculoskeletal disorders. OBJECTIVE: To study the prevalence of work-related musculoskeletal disorders and role of ergonomics in dermatologic surgery. METHODS AND MATERIALS: A survey study was sent to members of the American College of Mohs Surgery in 2010. The main outcome measures were survey responses relating to surgeon demographics, musculoskeletal symptoms, workstyle habits and attitudes, and ergonomic practices. RESULTS: Ninety percent of respondents reported some type of musculoskeletal symptoms or injuries. The most common complaints were neck, lower back, shoulder, and upper back pain. Most respondents were not using ergonomic modifications in their practice. CONCLUSION: Mohs surgeons have a high prevalence of musculoskeletal disorders. Symptoms present early and persist throughout the careers of Mohs surgeons. The nature of the occupation leaves the surgeon vulnerable to injury. Ergonomic modifications in behavior and workplace are recommended to reduce pain and injury to surgeons.


Subject(s)
Mohs Surgery , Musculoskeletal Diseases/etiology , Occupational Diseases/etiology , Adult , Data Collection , Ergonomics , Female , Humans , Male , Middle Aged , Pain Measurement , Task Performance and Analysis
9.
J Drugs Dermatol ; 11(5): 655-6, 2012 May.
Article in English | MEDLINE | ID: mdl-22527438

ABSTRACT

Immunosuppression is a known risk factor for the development of non-melanoma skin cancers (NMSC). Certain medications that induce immunosuppression, such as tumor necrosis factor-α (TNF-α) inhibitors, are being used more frequently. We report a case of a young, pregnant woman who was treated with infliximab for Crohn's disease, and subsequently experienced a rapid growth of two pre-existing basal cell carcinomas. As use of TNF-α inhibitors increases, it is important to closely monitor patients for the development of NMSC.


Subject(s)
Antibodies, Monoclonal/adverse effects , Carcinoma, Basal Cell/etiology , Skin Neoplasms/etiology , Adult , Anti-Inflammatory Agents/adverse effects , Anti-Inflammatory Agents/therapeutic use , Antibodies, Monoclonal/therapeutic use , Carcinoma, Basal Cell/pathology , Crohn Disease/drug therapy , Female , Humans , Immunocompromised Host , Infliximab , Pregnancy , Skin Neoplasms/pathology , Tumor Necrosis Factor-alpha/antagonists & inhibitors
10.
J Am Acad Dermatol ; 64(3): 475-83, 483.e1-5, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20888668

ABSTRACT

BACKGROUND: Given the expanding role of multiple surgical procedures in dermatology, resident training in procedural dermatology must be continually assessed to keep pace with changes in the specialty. OBJECTIVE: We sought to assess the third-year resident experience in procedural dermatology during residency training. METHODS: This survey study was mailed to third-year dermatology residents at 107 Accreditation Council for Graduate Medical Education (ACGME)-approved dermatology residency programs in 2009. RESULTS: A total of 240 residents responded (66%), representing 89% of programs surveyed. Residents assume the role of primary surgeon most commonly in excisional surgery (95%) and flap and graft reconstruction (49%) and least often in Mohs micrographic surgery (18%). In laser and cosmetic procedures, the resident role varies greatly. Residents believed they were most prepared in excisional surgery, botulinum toxin, and laser surgery. Residents believed it was sufficient to have only knowledge of less commonly performed procedures such as hair transplantation, tumescent liposuction, and ambulatory phlebectomy. Of responding residents, 55% were very satisfied with their procedural dermatology training during residency. LIMITATIONS: Individual responses from residents may be biased. Neither residency program nor dermatologic surgery directors were surveyed. CONCLUSION: This survey confirms dermatology residents received broad training in procedural dermatology in 2009, in keeping with ACGME/Residency Review Committee program guidelines. The results provide feedback to dermatology residency programs and are an invaluable tool for assessing, modifying, and strengthening the current procedural dermatology curriculum.


Subject(s)
Dermatologic Surgical Procedures , Dermatology/education , Internship and Residency , Surgical Procedures, Operative/education , Attitude of Health Personnel , Botulinum Toxins, Type A/administration & dosage , Clinical Competence , Curriculum , Humans , Laser Therapy , Mohs Surgery/education , Nails/surgery , Personal Satisfaction , Photochemotherapy , Plastic Surgery Procedures/education , Surgical Flaps , Surveys and Questionnaires
12.
Dermatol Surg ; 36(12): 1915-20, 2010 Dec.
Article in English | MEDLINE | ID: mdl-21040123

ABSTRACT

OBJECTIVE: To determine the number of Mohs micrographic surgery (MMS) stages per tumor taken by early- to mid-career Mohs surgeons and to assess other factors affecting number of stages. METHODS: Statistical analysis of MMS logs of 20 representative early- to mid-career surgeons. RESULTS: There was no difference in stages when surgeons were divided into two categories based on whether they had more than 500 cases per year or more than 5 years of experience. Similarly, when surgeons were categorized according to geographic location, there was no difference in number of stages. Anatomic location was associated with the number of stages (analysis of variance, p<.001), with the greatest number of stages for nose (2.01) and ear (2.06) lesions and the fewest for neck (1.47), back and shoulder (1.47), and lower extremity (1.33) lesions. Basal cell carcinomas required 1.92 stages (median 2.00), compared with 1.66 (median 1.00) for squamous cell carcinoma (p<.001). CONCLUSIONS: Early- and mid-career Mohs surgeons appear to remove tumors with similar numbers of stages regardless of their experience, case volume, or geographic location. Number of stages varies with anatomic location and tumor type. The authors have indicated no significant interest with commercial supporters.


Subject(s)
Mohs Surgery , Practice Patterns, Physicians'/statistics & numerical data , Skin Neoplasms/surgery , Analysis of Variance , Carcinoma, Basal Cell/surgery , Carcinoma, Squamous Cell/surgery , Clinical Competence , Cross-Sectional Studies , Female , Humans , Male , Surveys and Questionnaires , United States
13.
Lasers Surg Med ; 41(6): 423-6, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19588535

ABSTRACT

BACKGROUND AND OBJECTIVES: Port wine stains are congenital low-flow vascular malformations of the skin. Unlike hemangiomas, PWS do not involute with time, but rather if left untreated can hypertrophy and develop nodularity. Laser therapy of PWS particularly with pulsed-dye lasers, is a safe, well-established treatment that is successful in the majority of patients, especially for younger patients. Patients that fail to receive treatment early in life may subsequent develop lesions more likely to progress. STUDY DESIGN/PATIENTS AND METHODS: A case report and review of the literature are presented. We report a 43 year-old man born with a port-wine stain on the right side of his face that extended in the V2 distribution on his face. He had undergone several sessions with a pulsed-dye laser, the sequential dual-wavelength (595 nm and 1064 nm) laser and a CO2 resurfacing laser from the age of 26 but failed to follow through with a sufficient number of treatments to prevent hypertrophy. RESULTS: Due to an insufficient number and interval of treatments (with only 7 treatments over 16 years starting at age 26) with the various lasers, the patient's port wine stain continued to progress in color and development of nodularity. CONCLUSIONS: Patients born with port wine stains should have early laser treatment to achieve optimal results. Delay in treatment, as in this patient until age 26, may result in hard to treat PWS that can continue to progress in nodularity. This case illustrates the hypertrophy and nodularity that can occur due to progression of a PWS with failure to follow through with sufficient number of laser treatments.


Subject(s)
Lasers, Dye/therapeutic use , Lasers, Gas/therapeutic use , Low-Level Light Therapy , Port-Wine Stain/pathology , Port-Wine Stain/radiotherapy , Adult , Humans , Male , Patient Compliance , Treatment Failure
14.
Dermatol Surg ; 35(12): 1947-54, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19889007

ABSTRACT

BACKGROUND: Laser treatment of childhood hemangiomas remains controversial. Previous studies have used outdated technology, resulting in a potential overrepresentation of adverse outcomes. OBJECTIVE: To evaluate outcomes of hemangiomas treated with the most current laser technology. METHODS: A retrospective chart analysis of 90 patients with a median age of 3.0 months and a total of 105 hemangiomas were enrolled over a 2.5-year period. All were treated with the 595-nm long-pulse pulsed-dye laser (LP-PDL) with dynamic epidermal cooling at 2- to 8-week intervals depending on the stage of growth. Exclusion criteria were previous laser, surgical, or corticosteroid treatment. Three reviewers assessed outcomes. RESULTS: Near-complete or complete clearance in color were achieved for 85 (81%) and in thickness for 67 (64%) hemangiomas. There was no scarring or atrophy. Ulceration occurred in one case and resolved during treatment. Hyperpigmentation and hypopigmentation occurred in 4% and 14% of hemangiomas, respectively. CONCLUSION: Early treatment of childhood hemangiomas with the 595-nm LP-PDL with dynamic cooling may reduce the proliferative phase and result in excellent rates of clearing and few adverse events.


Subject(s)
Hemangioma/radiotherapy , Skin Neoplasms/radiotherapy , Child, Preschool , Female , Humans , Hypothermia, Induced , Infant , Infant, Newborn , Lasers, Dye , Low-Level Light Therapy , Male , Retrospective Studies , Treatment Outcome
15.
Dermatol Surg ; 34(11): 1454-8, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18798758

ABSTRACT

BACKGROUND AND OBJECTIVE: The effects of fractional resurfacing on eyelid tightening and aperture are unknown. Our purpose was to retrospectively examine the potential for eyelid tightening and eye-aperture opening in patients treated with nonablative fractional resurfacing for facial photorejuvenation. STUDY DESIGN/MATERIALS AND METHODS: Fractional laser treatments using a 1,550-nm erbium-doped fiber laser system on the upper and lower eyelids were given at a pulse energy of 17 to 20 mJ at 125 micro-thermal zones (MTZ)/cm(2) to a final density of 500 to 750 MTZ/cm(2). Each patient had 3 to 7 treatments. Standard pre- and post-treatment photographs were taken at each visit. Physicians who graded 31 preselected patient photographs using a 4-point scale evaluated eyelid tightening. Increase in eyelid aperture was also evaluated. RESULTS: All patients had some degree of eyelid tightening; 19% achieved 1% to 25% tightening, 26% achieved 25% to 50%, 26% achieved 50% to 75%, and 29% achieved 75% to 100%. Increase in eyelid aperture was seen in 55.9% of patients. Postoperative wounding, hypopigmentation, hyperpigmentation, persistent erythema, and scarring were not observed. All patients experienced mild or no edema for a few days after treatment. CONCLUSION: Fractional resurfacing tightens and increases eyelid aperture without wounding, downtime, or long-term complications.


Subject(s)
Cosmetic Techniques , Eyelids/radiation effects , Lasers , Rejuvenation , Female , Humans , Male , Middle Aged , Retrospective Studies
16.
J Drugs Dermatol ; 6(9): 931-2, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17941365

ABSTRACT

This case report seeks to alert the reader to the possibility that the keratoacanthoma (KA) may develop in tattoo sites, specifically in red tattoo sites. We further wish to describe the senior author's treatment of such a lesion using Mohs micrographic surgery and a rotation flap to preserve the integrity of the original tattoo design in an area of minimal skin laxity. We briefly discuss the etiology of the KA and review potential tattoo reactions as presented in the literature.


Subject(s)
Keratoacanthoma/surgery , Mohs Surgery/methods , Tattooing/adverse effects , Adult , Female , Humans , Keratoacanthoma/etiology , Keratoacanthoma/pathology , Surgical Flaps , Tattooing/methods , Time Factors
17.
J Drugs Dermatol ; 5(7): 655-8, 2006.
Article in English | MEDLINE | ID: mdl-16865872

ABSTRACT

BACKGROUND: Primary mucinous carcinoma of the skin is a rare sweat gland neoplasm which occurs most commonly in the periorbital region. Although the tumor has a propensity for local recurrence and regional spread, distant metastases are rare. The standard treatment of primary mucinous carcinoma is wide local excision. Mohs micrographic surgery may also be utilized in cases where tissue conservation is of utmost concern. OBJECTIVE: We present a case of primary mucinous carcinoma arising in the scalp, which was treated with wide local excision. METHODS: A case report and literature review are presented. RESULTS: Histopathologic evaluation revealed a well-circumscribed neoplasm characterized by lobules and aggregates of epithelial cells embedded in abundant pools of mucin. In addition, small aggregates of neoplastic cells were found at a distance from the primary nodule, indicative of lymphatic invasion. CONCLUSION: Primary mucinous carcinoma has a high propensity for locoregional metastases and recurrence. To our knowledge, this is the first report demonstrating direct histopathologic evidence of lymphatic invasion which correlates with this tumor's biologic behavior.


Subject(s)
Adenocarcinoma, Mucinous/pathology , Lymphatic Metastasis , Skin Neoplasms/pathology , Adenocarcinoma, Mucinous/surgery , Biopsy , Female , Humans , Middle Aged , Neoplasm Invasiveness , Skin Neoplasms/surgery
19.
Dermatol Online J ; 11(4): 16, 2005 Dec 30.
Article in English | MEDLINE | ID: mdl-16403388

ABSTRACT

A 35-year-old woman presented with cosmetically disturbing facial plaques, which had been present since birth and were consistent with nevus sebaceus on histopathologic examination. Nevus sebaceus is a congenital, hairless plaque, which is found most commonly on the scalp and face and typically becomes thicker and more verrucous in appearance as the patient enters adulthood. There is an association with benign and malignant neoplasms. Typically, these lesions are either removed surgically or the patients are followed clinically. Other therapeutic modalities utilized for cosmesis include carbon dioxide laser and photodynamic therapy.


Subject(s)
Facial Neoplasms/pathology , Head and Neck Neoplasms/pathology , Nevus/pathology , Scalp , Skin Neoplasms/pathology , Adult , Facial Neoplasms/therapy , Female , Head and Neck Neoplasms/therapy , Humans , Nevus/therapy , Skin Neoplasms/therapy
20.
Dermatol Online J ; 11(4): 8, 2005 Dec 30.
Article in English | MEDLINE | ID: mdl-16403380

ABSTRACT

A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.


Subject(s)
Fabry Disease/pathology , Skin Diseases, Genetic/pathology , Adult , Fabry Disease/diagnosis , Humans , Male , Skin/pathology , Skin Diseases, Genetic/diagnosis
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