Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. OBJECTIVES: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). CONCLUSIONS AND RELEVANCE: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.

Invasive Squamous Cell Carcinoma Arising From a Cystic Brow Mass.

An 82-year-old woman presented with a 6-month history of an enlarging brow mass that developed after trauma. Clinical and MRI appearance of the lesion appeared consistent with epidermal inclusion cyst. However, excisional biopsy demonstrated invasive squamous cell carcinoma, which recurred 6 weeks later and required repeat surgical excision. To our knowledge, this represents the first case of squamous cell carcinoma arising from a posttraumatic epidermal inclusion cyst.

Contralateral supraorbital eyebrow approach for tuberculum sellae meningioma.

BACKGROUND: The main challenge in tuberculum sellae meningioma (TSM) resection is the safe dissection of the optic nerves, which many a times are compressed and distorted by the tumor. While intuitive, an approach from the side of predominant tumor extension makes tumor dissection from the medial surface of the ipsilateral optic nerve rather blind. We describe here a contralateral supraorbital eyebrow approach (c-SEA) to address this "blind spot." METHOD: c-SEA was performed using a 2 × 2 cm craniotomy. The patient improved after surgery and postoperative imaging confirmed the totality of the tumor resection. CONCLUSION: c-SEA can be an excellent minimally invasive option for asymmetric TSM.

Borrelial pseudolymphoma of the eyebrow in an adult.

Borrelial pseudolymphoma, more commonly known as Borrelia lymphocytoma and previously also as lymphadenosis benigna cutis, is a rare manifestation of Lyme borreliosis, which occurs nearly always in children after an infection caused by Borrelia afzelii; this pathogen is transmitted exclusively by the Ixodes ricinus tick in our region. The most common body locations of this lymphocytoma include the earlobe, scrotum, nipples and the areomamillary complex. Therefore, the case of our patient was unexpected and quite rare. The aim of this article is to point out the high incidence of Lyme disease and its atypical manifestations which can be cured without surgical intervention in most cases. The authors describe the case of a 58-year-old healthy female patient with a very rare manifestation of Lyme disease.

Nonsebaceous lymphadenoma arising as a painless subcutaneous nodule on the eyebrow.

Salivary gland tumors can rarely present in skin excision specimens and can pose a diagnostic challenge to dermatopathologists. We present an exceptional case of a salivary gland type nonsebaceous lymphadenoma presenting as a painless subcutaneous nodule on the right medial eyebrow of a 16-year-old male, mimicking a primary cutaneous adnexal neoplasm. Histologic evaluation revealed a well-circumscribed to partially encapsulated nodule with a marked lymphoid infiltrate including reactive germinal centers. Within the lymphoid component was a central epithelial cystic neoplasm with tubuloglandular and basaloid differentiation. There was no myoepithelial component to suggest a chondroid syringoma. No sebaceous differentiation was present. The overall histopathological and immunohistochemical findings were consistent with a nonsebaceous lymphadenoma. Dermatopathologists should consider salivary gland type lymphadenoma as a differential diagnosis when encountering a subcutaneous lesion with lymphoid, cystic, glandular, and basaloid components.

A detailed regimen of isotretinoin for the successful treatment of severe keratosis pilaris.

Although a well-known recommended treatment option, there are currently no studies that describe the detailed regimen of isotretinoin for the treatment of primary keratosis pilaris. Based on previous studies involving other hyperkeratotic disorders, this report describes a safe and effective treatment course of isotretinoin for severe keratosis pilaris.

Pleomorphic Adenoma of the Eyebrow: An Unexpected Finding and Review of Unusual Periorbital Soft Tissue Lesions.

ABSTRACT: Soft tissue lesions of the eyebrow are common and are usually diagnosed as dermoid cysts, pilomatrixomas, inclusion cysts, or basal cell carcinomas. Pleomorphic adenomas are benign glandular lesions most commonly found in the parotid gland or salivary glands, and less commonly found in the lacrimal gland. Here the authors report the case of a 35-year-old male who presented with a prominent soft tissue lesion of his right upper brow. This had been present for several months and had not substantially changed in size. Operative excision was performed via a supratarsal crease incision. The mass was located in a deep, periosteal plane, similar to a dermoid cyst. Final pathology demonstrated a 1.1 × 1.0 × 0.9 cm pleomorphic adenoma without defining characteristics of either the lacrimal gland or the minor adnexal glands of the skin or subcutaneous tissue. The authors reviewed the current literature on unusual lesions of the periorbital and brow regions, and the authors present aggregate data regarding epidemiology, diagnosis, and management.

[Frontal fibrosing alopecia-update]. / Frontal fibrosierende Alopezie ­ aktuelles Wissen.

The number of patients presenting with frontal fibrosing alopecia (FAA) is increasing not only in hair clinics. The recognition of the peculiar clinical pattern and associated symptoms is an important prerequisite to ensure adequate counseling and therapeutic management of the patients. Experimental studies and a range of case series give first insights into the pathogenesis, possible trigger factors, clinical course of disease and treatment options. The clinical spectrum of FFA extends beyond the typical recession of the frontal hair line initially observed in postmenopausal women. Younger women, men and rarely adolescents may also be affected. Band-like extension to the occiput, diffuse bitemporal hair thinning, eyebrow and body hair involvement as well as facial papules are part of the clinical spectrum. Similar to lichen planopilaris, inflammation and fibrosis with involvement of the stem cell region result in permanent loss of hair follicles. Which additional factors contribute to the characteristic pattern remains to be elucidated. Currently, therapeutic management largely relies on anti-inflammatory treatment with combined topical, intralesional and systemic administration depending on disease activity. The chronic progressive course, sometimes even in the absence of pronounced inflammation remains a challenge for both the affected individuals and the treating physicians. Controlled studies are required to develop evidence-based recommendations and to explore novel treatment strategies.

[Clinical observation of microsurgical removal of the hemilateral tuberculum sellae meningiomas through contralateral eyebrow arch approach].

The current study aimed to investigate the clinical feasibility of microscopic resection of hemilateral tuberculum sellae meningiomas (TSM) via the contralateral eye brow arch approach. The clinical data of 34 patients with TSM who underwent microsurgery from January 2016 to June 2021 in the Neurosurgery Department of Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine and the First Affiliated Hospital of Henan University were collected and reviewed. The postoperative visual acuity improvement rate was 88.5% (23/26), and the total tumor resection rate was 88.2% (30/34); the postoperative visual acuity improvement in patients with total tumor resection was better than that of patients with partial resection [90.9% (20/22) vs 3/4]. Meanwhile, the postoperative visual acuity improvement in patients with the superior optic nerve and laterl-superior optic nerve was better than that of patients with the lateral optic nerve type (12/14, 8/8 vs 3/4). Supraorbital skin numbness occurred in 3 cases after operation, and the symptoms disappeared during follow-up; 2 cases had mild disturbance of hormone level, and urine output of 2 cases increased after operation, which returned to normal level after symptomatic treatment; 1 case had subcutaneous effusion which was absorbed after treatment. There were no complications such as olfactory disturbance and intracranial infection. During follow-up for 3-60 (33±6) months, recurrence occurred in 2 cases and reoperation was performed. For the hemilateral TSM, according to the preoperative evaluation of the origin of the TSM and the side with visual impairment, the contralateral eyebrow approach is selected to fully expose the tumor base below the optic nerve. It is beneficial to fully resect the tumor under direct vision, and the symptoms of postoperative visual impairment are significantly improved, indicating that the current surgical method can be used in the clinical setting.

Spiky/keratosis-pilaris-like early follicular mycosis fungoides: A clinicopathologic study of 20 cases with extended follow-up.

BACKGROUNDS: Follicular mycosis fungoides (FMFs) is a distinct form of T-cell lymphoma whose course is considered aggressive. METHODS: A retrospective study with long-term follow-up of 20 patients diagnosed with spiky/keratosis-pilaris-like FMF between 2008 and 2017 was conducted. RESULTS: Twelve males and eight females were identified, with a mean age at first diagnosis of 59 years (range 42-86). Hyperkeratotic follicular papules were the sole clinical finding in 16 of 20 patients. A diagnostic delay between first symptom development and initial diagnosis was frequent (mean 42 months). The head/neck region was concurrently affected only in two patients. Disease stage at diagnosis was IA in two patients (10%) and IB in 18 (90%). Five patients had almost complete lesion regression, whilst there was only a slight improvement, without regression in 14. Two patients developed infiltrated papules, comedones, and small cysts during follow-up. Only one patient progressed to tumor stage (IIB) five years after the first diagnosis. The mean follow-up was seven years (range: 12-180 months). None of them died of cutaneous lymphoma. CONCLUSIONS: FMF presenting with only spiky/keratosis-pilaris-like lesions have an excellent prognosis at medium-term follow-up. Early recognition of patients with this peculiar FMF presentation might lead to identifying prognostic factors.

Same viewing angle, minimal craniotomy enlargement, extreme exposure increase: the extended supraorbital eyebrow approach.

The supraorbital eyebrow approach (SEa) has been commonly used as a straightforward route to reach lesions located in the anterior cranial fossa. The reduced surgical exposure provided by this approach limits its applicability. A modification of the SEa, the extended supraorbital eyebrow approach (X-SEa), allows use of the transylvian corridor to approach parasellar lesions, while maintaining most of the aesthetic advantages of the SEa. To quantify the surgical exposure and maneuverability provided by the X-SEa using a cadaveric study. Eleven heads were used to obtain all stereotactic measurements. Surgical exposure and maneuverability were measured by means of the area of exposure and the angles of attack along key representative points in the anterior circulation. The horizontal angle of attack at the middle cerebral artery provided by the X-SEa was larger than that provided by the SEa (32.6 vs 18.4°, p = 0.009). The X-SEa afforded broader vertical angles of attack at all targets in the anterior circulation (p < 0.05). The total area of exposure provided by the X-SEa was significantly larger than that provided by the SEa (1272 vs 978 ± 156 mm2, p = 0.003). The area of exposure in the ipsilateral trigon and in the midline quadrangle was also significantly larger for the X-SEa (paramedian 195 vs 121 mm2, p = 0.01; midline 1310 vs 778 mm2, p = 0.002). The X-SEa increases the exposure and surgical maneuverability along the anterior and middle cranial fossa when compared to the standard SEa.

Pathologic Scarring after Eyebrow Micropigmentation: A Case Report and Systematic Review.

BACKGROUND: Skin tattooing and cosmetic eyebrow definition and reshaping (micropigmentation) have been growing exponentially in popularity. The pigment used in these procedures can activate the skin's inflammatory response, promoting the formation of pathologic scars. OBJECTIVE: To carry out a systematic review of the literature on this topic and report a case of pathologic scarring on the eyebrows after micropigmentation. METHODS: A systematic review of the literature was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses guideline in the MEDLINE, Lilacs, and SciELO databases using the keywords "scar; scar, hypertrophic; eyebrows; pigmentation; skin pigmentation; coloring agents; tattooing" and their synonyms. RESULTS: The systematic literature review did not identify any study reporting pathologic scarring on eyebrows after micropigmentation. This is likely because eyebrow pathology is uncommon, although these results are limited by the comprehensiveness of the systematic review. The case of a 50-year-old woman undergoing eyebrow micropigmentation who presented with hypertrophic scarring after the procedure is also reported. CONCLUSIONS: Eyebrow micropigmentation may be a risk factor for pathologic scarring, but further research is needed.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

CCCTC-binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations. We reported three additional Chinese patients with de novo variants in CTCF. The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of the eyebrow that may help to define a potential recognizable neurodevelopmental disorder. We also reported the first CTCF patient treated with recombinant human growth hormone. Follow-up and more case studies will further our understanding to the clinical presentations of this novel disorder and the prognosis of patients with this disorder.

The value of dermoscopy in diagnosing eyebrow loss in patients with alopecia areata and frontal fibrosing alopecia.

INTRODUCTION: Alopecia areata and frontal fibrosing alopecia are common causes of eyebrow loss (madarosis). OBJECTIVE: Assessment of trichoscopic markers of eyebrow loss in alopecia areata and frontal fibrosing alopecia. MATERIALS AND METHODS: The analysis included 50 patients with scalp alopecia areata with madarosis, 50 patients with scalp frontal fibrosing alopecia with madarosis and 50 healthy controls. In every case, trichoscopy of the eyebrow area was performed. RESULTS: Empty follicular and eccrine duct openings were observed in all patients and presented predominantly as yellow dots. Exclamation mark hairs were only detected in patients with alopecia areata (30%). Tapered hairs, broken hair, black dots and Pohl-Pinkus constrictions were observed in 14%, 36%, 26% and 4% of patients with alopecia areata, respectively, 4%, 16%, 2% and 0% of patients with frontal fibrosing alopecia, respectively, and they were not present in healthy controls. Dystrophic hairs and whitish areas were observed only in patients with frontal fibrosing alopecia (28% and 32%, respectively). Eyebrow regrowth in distinct directions was present in 32% of patients with frontal fibrosing alopecia, 8% of patients with alopecia areata and 4% of healthy controls. Diffuse erythema was detected in 60% of patients with alopecia areata and frontal fibrosing alopecia and 56% of healthy controls. Vellus hairs and upright regrowing hairs were observed in patients with alopecia areata (62% and 58%, respectively), frontal fibrosing alopecia (60% and 84%, respectively) and healthy controls (100% and 100%, respectively). CONCLUSION: Trichoscopy of the eyebrow area is useful in diagnosing patients with isolated eyebrow loss. The most characteristic trichoscopic features of eyebrow loss in alopecia areata include exclamation mark hairs, tapered hairs, broken hairs and black dots. Frontal fibrosing alopecia of the eyebrows is characterized by the presence of dystrophic hairs, white areas and eyebrow regrowth in distinct directions.

Use of Modified Islanded Paramedian Forehead Flap for Complex Periocular Facial Reconstruction.

The paramedian forehead flap is a workhorse flap for reconstructing the nose and periorbital regions. Many variants are described including an islanded flap. However, eyebrow reconstruction is not usually performed with these flaps. The authors describe a patient suffering from postburn scarring medial to the left eye, including loss of the left eyebrow. He underwent a single-stage transfer of the paramedian forehead flap. The flap incorporated scalp hair, which restored the missing eyebrow hair after transfer. The donor defect closed primarily. The paramedian forehead flap is amenable to customization by including a segment of hair-bearing scalp to concomitantly reconstruct the nasal dorsum and eyebrow.

Keratosis pilaris rubra with mucin deposition.

Keratosis pilaris (KP) is a benign cutaneous disorder characterized by folliculocentric hyperkeratotic papules most often occurring on the proximal extremities. Erythema is usually limited to perifollicular skin, but when keratosis pilaris presents on a background of confluent erythema, the term keratosis pilaris rubra (KPR) is used. The histological findings associated with KP have not been well described in the literature. Herein, we present a case of a 14-year-old male with a 7-year history of erythema and follicular-based papules over his bilateral cheeks, consistent with KPR. Histological examination revealed abundant mucin, keratotic follicular plugging, and periadnexal lymphocytosis. Our novel finding of abundant dermal mucin expands the histopathologic description of KPR.

Chlorine Dioxide Complex Cleanser: A New Agent With Rapid Efficacy for Keratosis Pilaris.

Chlorine dioxide complex™ is a new molecule to dermatology that is a unique, non-toxic, broad spectrum anti-microbial and keratolytic compound. Chlorine dioxide has been used as an antiseptic in industrial settings for decades, primarily in water treatment facilities for municipal water supplies and food preparation. The compound has exceptional antiseptic properties with no known potential for development of resistance. It is a true keratolytic and anti-inflammatory, but is non-toxic to human tissue due to its unique mechanism of action. Chlorine dioxide's use in consumer products was previously limited because it is inherently an unstable molecule that had to be used quickly after it was produced. However, the recent development of a complexed form of chlorine dioxide that retains its antimicrobial and keratolytic activity has allowed the development of products (AsepticMD, Aseptic Plus, Nashville, TN) that take advantage of the properties of this unique molecule. Here we report a case series demonstrating its efficacy as a cleanser in keratosis pilaris. J Drugs Dermatol. 2018;17(5):554-556.

Frontal Fibrosing Alopecia: A Retrospective Analysis of 72 Patients from a German Academic Center.

Frontal fibrosing alopecia (FFA) describes the scarring, band-like recession of the frontotemporal hairline. Treatment is difficult, and currently, no evidence-based therapy exists. The purpose of this study is to report clinical features and treatment responses in a large cohort of patients with FFA. The authors analyzed a series of 72 patients with a clinical or histologic diagnosis of FFA. A total of 70 patients were female (97.2%), and 2 were male (2.8%). In females, the first onset of FFA was postmenopausal in 81.4% (n = 57). Documented eyebrow loss was present in 61.1% (n = 44), whereas involvement of eyelashes and body hair was reported in only 4.2% (n = 3) and 5.6% (n = 4), respectively. Clinical symptoms were itching (40.3%, n = 29) and trichodynia (4.2%, n = 3) in the alopecic area. Virtually all patients were treated with topical high-potency steroids. Additional treatments were topical tacrolimus, systemic retinoids, and hydroxychloroquine. A total of 48 patients (66.7%) received a combination of high-potency steroids with topical pimecrolimus. In this subgroup, subjective improvement or disease stabilization was reported by 64.6% (n = 31), and the hairline was stabilized on average after 9 to 12 months of therapy. The combination therapy of topical high-potency steroids with pimecrolimus may be an effective and steroid-saving treatment for FFA.