Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

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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.

Benign familial chronic pemphigus or Hailey–Hailey disease is caused by an autosomal dominant mutation in the ATP2C1 gene leading to suprabasilar acantholysis. The disease most commonly affects intertriginous areas symmetrically. The chronic nature of the disease and multiple recurrences make the disease bothersome for patients and a treatment challenge for physicians. Treatments include topical and/or systemic agents and surgery including laser. This review summarizes the available treatment options.

Basal cell carcinoma (BCC) is the most common type of skin cancer with an increasing incidence. However, it is still poorly researched compared to many other human diseases. Today, cutaneous neoplasms are a frequent, major problem faced by medical professionals. BCC tumors can cause extensive cosmetic distress as well as disfigurement to patients especially when on the face. Treatment options include surgery, systemic agents, and topical agents. Over the past few decades more studies have been performed to evaluate the utility of topical imiquimod therapy for treatment of BCC. Imiquimod is a toll-like receptor that modifies the immune response via the up-regulation of cytokines and has the capacity to improve a person's immune response. Multiple clinical studies have demonstrated the ability of topical imiquimod to diminish or even eradicate basal cell carcinoma. Given this variety of treatment options and the need for noninvasive options, this review is focused on summarizing the existing information available on the use of imiquimod for BCC and comparing it to other treatment modalities. While excision is the first line treatment and often has greater success with regards to clearance, imiquimod has been shown to be an efficacious treatment modality for BCC. Imiquimod therapy has been shown to be a less invasive and cheaper option than many other treatment modalities. It may be used as either monotherapy or in combination with other treatments, though occlusion has not been shown to be helpful. Several dosing regimens have been studied in the literature. Dosing should take into account factors such as the type of BCC, location, and physician/patient comfort with the regimen. Variability in response to treatment with imiquimod amongst studies suggests that response to treatment may depend on location of lesion, thus more research must be done in this area.

There are many laser technologies that are being tested that claim to support hair regrowth for patients with alopecia areata (AA). In this paper, we will determine whether the body of evidence supports the use of devices using monochromatic light sources to treat AA. Articles were gathered from PubMed, Embase, and the Cochrane database using these keywords: lasers, excimer laser, low-level laser therapy (LLLT), low-level light therapy, alopecia, alopecia areata, and hair loss with a category modifier of English. Ten clinical trials and seven case reports/abstracts were assessed. Eight clinical trials and two case reports demonstrated hair regrowth with the 308-nm excimer laser/light in men, women, and children. One case report demonstrated hair regrowth with the ALBA 355® laser. One clinical trial and two case reports demonstrated hair regrowth with LLLT. While two case reports demonstrated hair regrowth with fractional laser therapy, one clinical trial showed no improvement. The 308-nm excimer laser is a safe and effective treatment for men, women, and children with refractory AA of the scalp and beard. Larger, double-blinded clinical trials should be conducted to compare excimer laser therapy to standard treatments. More data is needed to determine the efficacy of LLLT and fractional laser therapy in the treatment of AA.

A nevus is described as a benign, often pigmented, skin growth that can be congenital or acquired. Different types of nevi are located at different depths within the skin. Traditional treatments for nevi include topical treatments, dermabrasion, and excision, which are generally ineffective, invasive, and often result in scars and dyspigmentation. Lately, laser therapy has been used as an alternative. Based on the theory of selective photothermolysis, melanin can be specifically targeted, minimizing adverse effects and increasing effectiveness of laser treatments. Several types of lasers and lights have been studied for this purpose without a concise agreement as to which is the best. In general, quality-switched lasers are preferred for the treatment of pigmented lesions. However, there is controversy about this therapy because certain nevi may have malignant potential. This article serves as a comprehensive review of available laser treatments for nevi and discusses the appropriate measures that should be taken before and after laser therapy. Based on the reviewed literature, laser treatment has generally been proven to be a safe and effective therapy for nevi with minimal side effects.

We report the case of 17-year-old female diagnosed with Costello syndrome. Genetic testing provided a proof with G12S mutation in the HRAS gene since 3 years of age with a presentation of severe nodulocystic acne on her face. After 2 months of oral isotretinoin treatment, improvement in her acne was observed. Interestingly, an unexpected significant improvement of acanthosis nigricans on her neck and dorsum of her hands was found as well. We present this case as a successful treatment option by using oral isotretinoin for the treatment of acanthosis nigricans in Costello syndrome patients.