Modalities of treatment for Nevus depigmentosus: review of the literature.

BACKGROUND: Nevus depigmentosus (ND) is one of the pigmentary conditions that is characterized by a hypopigmented patch with an irregular border. It is usually present at birth or shortly after birth. It is not a progressive condition, but it may increase in size in proportion to the growth of the body. Despite many treatment modalities, there is no effective treatment for this condition. OBJECTIVE: To review all articles about the treatment options for ND. METHODS: Pubmed database were searched for this study, and relative clinical trials were included in the review. Descriptive findings, including age, gender, and treatment modality and response, were reported. RESULTS: A total of 62 articles were identified, and 16 relevant articles were included in this review after screening and removing the duplicates. CONCLUSION: In the literature, a limited number of treatment modalities have been employed for ND. Among these, surgical interventions and phototherapy have been the most commonly studied, but their efficacy has varied. Unfortunately, there is no definitive cure for ND, and recurrence of the lesion is not an uncommon occurrence even after complete clearance. Furthermore, there is a dearth of large-scale clinical studies that comprehensively analyze the different treatment modalities for ND.

A Single-Institution Cohort Study With Nevi of Special Site: Recurrence, Progression to Melanoma, and Patterns of Management.

ABSTRACT: Nevi of specialized sites (NOSS) occur on the scalp, ears, flexural, acral, and genital areas and display atypical clinical and histologic features. We assessed NOSS recurrence and progression to melanoma, management patterns, and associations between histologic features and treatment recommendations. We queried all histologic diagnoses of NOSS (n = 275) from 2012 to 2017 from a large U.S. academic medical center with reference dermatopathology laboratory and matched these to clinical records. A blinded panel of dermatopathologists re-evaluated lesions, catalogued histologic findings, and gave management recommendation. Associations with dermatopathologist decision and concordance between new and original recommendations were assessed. Of 117 cases with follow-up, 2 locally recurred (1.46%) and none eventuated in melanoma. Clinical features were not associated with original treatment recommendations. After histopathologic review, large melanocytes [odds ratio ratio (ORR) = 8.00, 95% CI, 1.35-47.4] and junctional mitotic figures (ORR = 65.0, 6.5-650) predicted excision recommendation. Likewise, accumulation of many (>9) high-risk features was associated with excision recommendation. Panel review changed treatment recommendation in 27% of cases. Fair concordance existed between original and panel recommendations (κ = 0.29, 0.15-0.44). The low rate of recurrence and lack of melanoma occurrence suggest that despite an atypical clinical and histopathologic appearance, these nevi have limited potential for malignant transformation. Histopathologic findings seem to be principal drivers behind the recommendation for excision in this analysis. Variability existed in treatment recommendations; the panel's consensus recommendation tended to downgrade treatment. This highlights the importance of further outcomes-based studies to identify true high-risk features and refine management guidelines.

Intense pulsed light treatment for Becker's nevus.

BACKGROUND: Becker's Nevus (BN) is a benign hamartoma with an esthetically troublesome condition secondary to hyperpigmentation and hypertrichosis. Many treatment modalities have been utilized with variable outcomes. OBJECTIVES: To evaluate the efficacy and safety of intense pulsed light (IPL) in the treatment of BN. PATIENTS AND METHODS: IPL was used at filter of 590 nm, fluence of 18-22 J/cm2, double-pulse mode (pulse width of 3-10 ms, pulse delay of 20-30 ms) at 3-month intervals. Final evaluations were performed by physician global assessment and patient satisfaction. Side effects were monitored at each treatment session and follow-up visit. RESULTS: Twenty-four patients (9 females, 15 males) with BN (16 hypertrichotic, 8 atrichotic) completed the study. The mean number of treatment sessions was 5 ± 2.17. The improvement in atrichotic BN group (4.87 ± 0.35) was significantly greater than that observed in hypertrichotic BN group (3.63 ± 0.89) (p = .001). Hair density simultaneously decreased with treatment in hypertrichotic BN. The mean satisfaction score was 5.75 ± 2.05 and 8 ± 0.93 in hypertrichotic and atrichotic BN groups respectively (p = .002). No repigmentation was noted during the follow-up period. No permanent side effects were observed. CONCLUSIONS: IPL is an effective and well-tolerated treatment option for patients with hypertrichotic and atrichotic BN.

Overgrowth syndromes and new therapies.

Overgrowth syndromes represent a diverse group of disorders with overlapping features. Interdisciplinary management by a team of experts in vascular anomalies is crucial for establishing the correct diagnosis and optimizing outcomes for these patients. Unique management considerations include increased risk for thrombosis and in some cases, cancer. In recent years, research has demonstrated that these disorders are primarily caused by somatic mutations in growth pathways, particularly the PI3K-mTOR pathway. This improved understanding had led to promising new therapies for this group of patients.

Orthopedic issues in vascular anomalies.

Vascular anomalies impact the musculoskeletal system dependent on the tissue involved (skin, subcutis, muscle, cartilage, or bone), the extent of involvement, and the type of anomalous vessels (arteries, capillaries, veins, or lymphatics). These malformations can cause a multitude of musculoskeletal problems for the patient. Leg-length discrepancy, intra-articular involvement, muscular lesions, and primary or secondary scoliosis are amongst the issues that patients face. All of these problems can cause pain, deformity, and a range of functional limitations. Surgical and nonsurgical treatment plans have a role in patient care. Patients with vascular anomalies may also suffer from life-threatening cardiovascular and hematologic abnormalities. For those patients who undergo surgery, the thromboembolic risk is elevated, wound breakdown and infection are much more common, and bleeding risk continues well into the postoperative course. Because of the complex nature of these disorders, the clinician must have a full understanding of the types of lesions, their natural history, appropriate diagnostic studies, associated medical problems, indications for treatment, and treatment options. For severe malformations, especially syndromes such as CLOVES and Klippel- Trenaunay syndrome, interdisciplinary team management is essential for the best outcomes.

Nódulo proliferativo en nevus melanocítico congénito gigante / Proliferative nodule in giant congenital melanocytic nevus

El nevus melanocítico gigante es una entidad poco frecuente. En los primeros meses o años de vida, pueden aparecer nódulos dérmicos pequeños o grandes, muy pigmentados, que pueden crecer rápidamente o incluso ulcerarse. Esto obliga a realizar diagnóstico diferencial con el melanoma. Se presenta el caso de una paciente de 3 años de edad, con gran lesión pigmentada en pierna izquierda, con nódulos de rápido crecimiento, compatibles con nódulo proliferativo.

Giant melanocytic nevi are rare. In the fi rst few months or even years of life, they may develop small or large dermic nodules, very pigmented, with rapid growth o even ulcer formation. This forces the diff erential diagnosis with melanoma. We present a case of a 3 year old female patient, with a large pigmented lesion on the left leg, with nodules compatible with proliferative nodules.

Nevus Depigmentosus: An Update.

Nevus depigmentosus, a disorder of hypopigmentation, occurs in both sexes and all races. It most commonly presents in early infancy and childhood as a nonprogressive hypomelanotic macule. It is considered a form of cutaneous mosaicism due to somatic mutation in pigmentary genes, which results in functional impairment of melanocytes. Clinical forms include localized, segmental, and systemized. Rare cases of nevus depigmentosus may be associated with systemic features. Treatment is usually not required, although certain techniques such as suction-blister grafting, excimer laser, and cosmetic camouflage have been tried with variable results. Counseling of parents plays a significant role to allay apprehension and anxiety.

What's New in Genetic Skin Diseases.

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.

Nevus depigmentosus: review of a mark of distinction.

Nevus depigmentosus (ND), also known as nevus achromicus or achromic nevus, is an uncommon congenital hypomelanosis of the skin that is often characterized as being nonprogressive and having serrated borders. It needs to be distinguished from other hypopigmented skin conditions such as nevus anemicus, hypomelanosis of Ito, Fitzpatrick patches (ash leaf spots) of tuberous sclerosis, vitiligo, indeterminate leprosy, and pigment demarcation lines. Treatment may be desired for aesthetic and possible psychosocial considerations. We review and update knowledge about ND and its simulants.

Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

OBJECTIVE: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE). METHODS: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported. RESULTS: A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE. CONCLUSIONS: Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.

[Diagnosis and Therapy of Iris Lesions]. / Diagnostik und Therapie von Irisläsionen.

The most common iris lesions are iris nevi, iris melanomas and iris pigment epithelium cysts. However, there is an abundance of rare differential diagnoses that have to be considered, including other melanocytic and non-melanocytic lesions. Diagnostic tools include the slit lamp examination, gonioscopy, tonometry, transillumination, ultrasound biomicroscopy (UBM), optical coherence tomography, fluorescein angiography and standardized photography-assisted documentation. The timely identification of malignant lesions (i.e. iris melanoma) is paramount. To assess malignancy criteria of iris nevi, the ABCDEF rule (age young, blood, clock hour inferior, diffuse growth, ektropion uveae, feathery margins) can be applied. Statistically, up to 11% of iris nevi may develop into iris melanomas within 20 years. TNM Staging follows the 2010 AJCC cancer staging manual and helps determine the optimal treatment strategy. Treatment options include radiotherapy, such as plaque brachytherapy and proton beam radiation therapy, as well as surgical excision. Both the surgical and the radiotherapeutic approaches show comparable local tumor control rates. However, the spectrum of therapy-related side effects and complications may differ amongst treatment modalities. After initial treatment, patients should be followed up every 3 - 6 months. Tumor-related mortality ranges between 0 - 11% and is significantly lower than in other uveal melanomas. A prognostic value of common genetic alterations, which have been identified as significant prognostic factors in posterior uveal melanoma, could not be shown for iris melanoma.

Isotretinoin and Surgical Extraction for Adult-Onset Nevus Comedonicus.

We present a case of postmenopausal-onset nevus comedonicus in a 58-year-old white woman with no relevant medical history. Two years before presentation, the patient had had a solitary red nodule, measuring 3.8 cm wide, on the mid lateral region of her left thigh. This progressed to a large area, 11.4 cm wide and 14 cm long, of multiple pruritic and painful red nodules, cysts, and deep open comedones extending across the lateral part of the left thigh, with less severe segmental extension to the lateral aspect of the left leg.

Connective Tissue Nevi: A Review of the Literature.

Connective tissue nevi (CTN) are hamartomas of the dermis, with the 3 main components being collagen, elastin, and proteoglycans. Each subtype can present as a solitary lesion or multiple lesions. They could present as part of systemic diseases or inherited disorders. This article provides a comprehensive literature review of the different types of CTN, their clinical presentations, associations, and treatment options. Treatment options for 56 lesions were reviewed. Fifty-two percent of lesions were present in males, and the age range at the time of presentation was wide (1.6-80 years). Management varied according to CTN subtypes. Most lesions (14) received topical or intralesional treatment with corticosteroids, followed by surgical removal of lesions (12), whereas the remaining lesions were clinically monitored.

Pigmentation Disorders: Diagnosis and Management.

Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café au lait macules. These conditions are generally benign but can be distressing to patients. Appropriate dermatologic history, skin examination, and skin biopsy, when appropriate, can help exclude melanoma and its precursors. In addition to addressing the underlying condition, hyperpigmentation is treated with topical agents, chemical peels, cryotherapy, light or laser therapy, or a combination of these methods. Café au lait macules are treated with surgical excision or laser therapy if treatment is desired. Hypopigmentation disorders include vitiligo, pityriasis alba, tinea versicolor, and postinflammatory hypopigmentation. Treatment of vitiligo depends on the distribution and extent of skin involvement, and includes topical corticosteroids and calcineurin inhibitors, ultraviolet A therapy (with or without psoralens), narrowband ultraviolet B therapy, and cosmetic coverage. Patients with stable, self-limited vitiligo may be candidates for surgical grafting techniques, whereas those with extensive disease may be candidates for depigmentation therapy to make skin tone appear more even. Other hypopigmentation disorders may improve or resolve with treatment of the underlying condition.

Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient.

CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies) syndrome is a congenital and almost exclusively pediatric syndrome associated with vascular malformations of the neuroaxis. We report the case of a complex spinal arteriovenous fistula in an adult woman with CLOVES syndrome treated using a multidisciplinary approach with endovascular embolization and microsurgical technique, and review the medical literature on this disease.