ABSTRACT
Of patients with a Noonan syndrome phenotype, only about 1% are found to be related to pathological variants in CBL, also known as Noonan syndrome-like disorder (NSLD). We present a case of a 4-year-old boy diagnosed with NSLD, presenting with multiple melanocytic nevi and superficial neurofibromas. A literature review identified common cutaneous findings of NSLD, for example, café-au-lait macules (22%), juvenile xanthogranuloma (16%), and thin hair (10%). As there are no documented cases of neurofibromas associated with NSLD, and only a single report of multiple melanocytic nevi, inclusion of these features in the phenotype may be warranted and mitigate the necessity for future biopsies in other children.
ABSTRACT
BACKGROUND: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV). OBJECTIVE: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children. METHODS: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected. RESULTS: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV. CONCLUSIONS: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.
Subject(s)
Nose , Humans , Child, Preschool , Infant , Prospective Studies , Male , Female , Child , Nose/blood supply , Veins/abnormalities , Veins/anatomy & histology , Infant, Newborn , Skin PigmentationABSTRACT
We have observed a distinct phenomenon of transient oral lingual leukoplakia in infancy and report 22 healthy infants with gray-white plaques on the dorsal tongue with sparing of the tip from four medical centers in three countries. The onset of the eruption ranged from 1 week to 7 months of life and resolved in 19 patients (86%, with 3 patients lost to follow-up). None of the eight patients examined at 1 year of age had residual findings. We believe this is a common entity that can be distinguished from oral candidiasis on clinical and/or laboratory examination and name this entity "transient infantile lingual leukoplakia."
Subject(s)
Leukoplakia, Oral , Humans , Male , Infant , Female , Leukoplakia, Oral/diagnosis , Leukoplakia, Oral/pathology , Infant, Newborn , Tongue Diseases/diagnosis , Tongue Diseases/pathology , Tongue/pathology , Diagnosis, DifferentialABSTRACT
Rosacea is a common chronic skin disease distributed primarily around the central face. Ocular manifestations of rosacea are poorly studied, and estimates of prevalence vary widely, ranging from 6% to 72% in the rosacea population. Treatment options for ocular rosacea include lid hygiene, topical and oral antibiotics, cyclosporine ophthalmic emulsion, oral vitamin A derivatives, and intense pulsed light; however, a direct comparison of treatment methods for ocular rosacea is lacking. This review aims to compare treatment efficacy and adverse events for different treatment modalities in ocular rosacea. We performed a systematic review by searching Cochrane, MEDLINE and Embase. Title, abstract, full text screening, and data extraction were done in duplicate. Sixty-six articles met the inclusion criteria, representing a total of 1,275 patients. The most effective treatment modalities were topical antimicrobials and oral antibiotics, which achieved complete or partial response in 91% (n = 82/90) and 89% (n = 525/580) of patients respectively, followed by intense pulsed light (89%, n = 97/109 partial response), cyclosporine ophthalmic emulsion (87% n = 40/46), and lid hygiene (65%, n = 67/105). Combination treatments achieved a complete or partial response in 90% (n = 69/77). Results suggest that topical antimicrobials, oral antibiotics, intense pulsed light. and cyclosporine were the most efficacious single modality treatments.
Subject(s)
Rosacea , Skin Diseases , Humans , Emulsions , Rosacea/diagnosis , Rosacea/drug therapy , Anti-Bacterial Agents/therapeutic use , Cyclosporine/therapeutic use , Skin Diseases/drug therapySubject(s)
Ecchymosis , Edema , Humans , Male , Edema/etiology , Edema/diagnosis , Infant , Ecchymosis/etiology , Hand , Diagnosis, DifferentialABSTRACT
BACKGROUND: Lichen striatus is a benign dermatosis that affects mainly children. This condition mimics many other dermatoses. OBJECTIVE: The purpose of this article is to familiarize pediatricians with the clinical manifestations of lichen striatus to avoid misdiagnosis, unnecessary investigations, unnecessary referrals, and mismanagement of lichen striatus. METHODS: A search was conducted in June 2023 in PubMed Clinical Queries using the key term "Lichen striatus". The search strategy included all observational studies, clinical trials, and reviews published within the past ten years. Only papers published in the English literature were included in this review. The information retrieved from the above search was used in the compilation of this article. RESULTS: Lichen striatus is a benign self-limited T-cell mediated dermatosis characterized by a linear inflammatory papular eruption seen primarily in children. The onset is usually sudden with minimal or absent symptomatology. The eruption in typical lichen striatus consists of discrete, skin- colored, pink, erythematous, or violaceous, flat-topped, slightly elevated, smooth or scaly papules that coalesce to form a dull red, potentially scaly, interrupted or continuous band over days to weeks. Although any part of the body may be involved, the extremities are the sites of predilection. Typically, the rash is solitary, unilateral, and follows Blaschko lines. In dark-skinned individuals, the skin lesions may be hypopigmented at onset. Nails may be affected alone or, more commonly, along with the skin lesions of lichen striatus. The differential diagnoses of lichen striatus are many and the salient features of other conditions are highlighted in the text. CONCLUSION: Lichen striatus is a self-limited condition that often resolves within one year without residual scarring but may have transient post-inflammatory hypopigmentation or hyperpigmentation. As such, treatment may not be necessary. For patients who desire treatment for cosmesis or for the symptomatic treatment of pruritus, a low- to mid-potency topical corticosteroid or a topical immunomodulator can be used. A fading cream can be used for post-inflammatory hyperpigmentation.
ABSTRACT
BACKGROUND: Pinworm infestation is an important public health problem worldwide, especially among children 5 to 10 years of age in developing countries with temperate climates. The problem is often overlooked because of its mild or asymptomatic clinical manifestations. OBJECTIVE: The purpose of this article was to familiarize pediatricians with the diagnosis and management of pinworm infestation. METHODS: A search was conducted in August 2023 in PubMed Clinical Queries using the key terms "Enterobius vermicularis," OR "enterobiasis," OR "pinworm." The search strategy included all clinical trials, observational studies, and reviews published within the past 10 years. Only papers published in the English literature were included in this review. The information retrieved from the above search was used in the compilation of the present article. RESULTS: Enterobiasis is a cosmopolitan parasitosis caused by Enterobius vermicularis. It affects approximately 30% of children worldwide and up to 60% of children in some developing countries. Predisposing factors include poor socioeconomic conditions, inadequate sanitation, poor personal hygiene, and overcrowding. Children aged 5 to 14 years have shown the highest prevalence of enterobiasis.. Egg transmission is mainly by the fecal-oral route. Approximately 30 to 40% of infested patients do not show any clinical symptoms of the disease. For symptomatic patients, the most common presenting symptom is nocturnal pruritus ani. The diagnosis of E. vermicularis infection is best established by the cellophane tape test. The sensitivity of one single test is around 50%; however, the sensitivity increases to approximately 90% with tests performed on three different mornings. If a worm is visualized in the perianal area or the stool, a pathological examination of the worm will yield a definitive diagnosis. As pinworms and eggs are not usually passed in the stool, examination of the stool is not recommended. The drugs of choice for the treatment of pinworm infestation are mebendazole (100 mg), pyrantel pamoate (11 mg/kg, maximum 1 g), and albendazole (400 mg), all of the above-mentioned drugs are given in a single dose and repeated in two weeks. Mebendazole and albendazole are both adulticidal and ovicidal, whereas pyrantel pamoate is only adulticidal. Given their safety and effectiveness, mebendazole and albendazole are currently the best available drugs for the treatment of pinworm infestation. For pregnant women, pyrantel is preferred to mebendazole and albendazole. Treatment of all household members should be considered, especially if there are multiple or repeated symptomatic infections because reinfection is common even when effective medication is given. CONCLUSION: In spite of effective treatment of pinworm infestation, recurrences are common. Recurrences are likely due to repeated cycles of reinfection (particularly, autoinfection) because of the short life span of adult pinworms. Good personal hygiene, such as frequent handwashing, especially after bowel movements and before meals, clipping of fingernails, avoidance of finger-sucking, nail-biting, and scratching in the anogenital area, are important preventive measures. Treatment of all household members should be considered, especially if there are multiple or repeated symptomatic infections.