Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the development of congenital melanocytic nevi and benign or malignant melanocytic tumors of the central nervous system. Neurologic symptoms usually manifest during the first two years of life with a high mortality rate.
This is a case of a 3-year-old girl presenting with generalized large and multiple hyperpigmented macules and patches, some with hair, over the scalp, face, trunk, and extremities, present since birth. Histologic findings of a nodule within a nevus include nested melanocytes at the epidermis, cords and strands of melanocytes extending to the deep reticular dermis showing maturation with descent and lack of mitosis consistent with melanocytic nevi. The cranial magnetic resonance imaging contrast study revealed melanocytic deposits on the cerebellum and amygdala. She has regular follow-up with her dermatologist, pediatrician, and neurologist. The patient has remained asymptomatic of neurological symptoms despite the melanocytic deposits in the central nervous system.

Human ; Female ; Child ; Amygdala ; Cerebellum ; Dermatologists ; Dermis ; Epidermis ; Hair ; Melanocytes ; Melanosis ; Mitosis ; Neurocutaneous Syndromes ; Neurologists ; Nevus ; Nevus, Pigmented ; Scalp ; Skin Neoplasms

Rothmund-Thomson syndrome (RTS) is a rare, autosomal recessive disorder characterized by early onset of progressive poikiloderma, cutaneous and extracutaneous findings including sparse hair, juvenile cataracts, short stature, skeletal defects, hypogonadism, dystrophic teeth and nails.
This is a case of a 4-year-old boy who developed at 2 months of age, reticulated erythematous macules and patches over predominantly sun-exposed areas such as the malar areas, ears, neck, extensor surfaces of the forearms and legs. This later on progressed into poikilodermatous lesions associated with sparse scalp hair, eyebrows, eyelashes and short stature. This is a report on the first documented Filipino patient diagnosed with RTS.

Human ; Male ; Child Preschool ; Atrophy ; Cataract ; Connective Tissue Diseases ; Dwarfism ; Eyebrows ; Eyelashes ; Forearm ; Hypogonadism ; Leg ; Nails ; Rothmund-thomson Syndrome ; Scalp ; Skin Diseases

Introduction: Atopic dermatitis (AD) is a complex disease with an interplay of genetic and environmental factors. In the United States, AD affects 10.7% of children andyc 7.2% of adults. Similarly in the Philippines, the prevalence of AD is 12.7% in the under 18 population, and 2% in the over 18 population. While AD affects all ages, the burden of the disease is greater in the pediatric population. The pathogenesis of AD is multifactorial. Variations in genes responsible for epidermal barrier function, keratinocyte terminal differentiation, and the innate and adaptive immune responses have been linked to AD. A null mutation involving the filaggrin gene is the strongest known risk factor for AD. This mutation results in a loss of filaggrin (FLG) protein by at least 50%. Filaggrin breakdown products form part of the natural moisturizing factor (NMF) of the skin, which is essential in skin hydration. A decrease in NMF and an increase in transepidermal water loss (TEWL) are observed in AD patients with FLG mutation. The defective barrier in AD patients decreases skin defenses against irritation and allergen penetration. Exposure to certain environmental chemicals like formaldehyde may worsen this barrier. This may lead to increased skin permeability to aeroallergens that leads to dermatitis in sensitized patients. Barrier defects may also play a role in epicutaneous sensitization and the subsequent development of other atopic conditions, such as bronchial asthma and allergic rhinitis. The Philippine Dermatological Society (PDS) consensus on AD aims to provide a comprehensive guideline and evidence-based recommendations in the management of this condition, with consideration of cultural factors that are often encountered in the Philippine setting. These guidelines are intended to provide practitioners with an overview of the holistic approach in the management of AD, ameliorating the negative effects of the disease and improving overall quality of life.. Methodology: A group of 21 board-certified dermatologists from the Philippine Dermatological Society (PDS) convened to discuss aspects in the clinical management of AD. Database and literature search included the full-text articles of observational studies, randomized controlled clinical trials, and observational studies using the Cochrane library, PubMed, Hardin (for Philippine based studies) as well as data from the PDS health information system. The terms used in combinations from the literature included “atopic dermatitis”, “atopic eczema”, “emollients”, “topical corticosteroids”, “topical calcineurin inhibitors”, “anti-histamines” and “phototherapy”. A total of fifty (50) full text articles were reviewed and found applicable for the scope of the study. Articles were assessed using the modified Jadad scale, with score interpretations as follows: (5- excellent, 3- good, 1– poor). Consensus guidelines for AD from within and outside of the region were also reviewed, from the 2013 Asia-Pacific guidelines, 2014 Taiwanese Dermatological Association consensus, 2016 guidelines in the management of AD in Singapore, 2014 American Academy of Dermatology guidelines, and the 2020 Japanese guidelines for AD. From the literature review, proposed consensus statements were developed, and a Delphi survey was conducted over two separate virtual meetings. Individual dermatologists provided Likert Scoring (1- strongly disagree to 5- strongly agree) based on consensus statements. A consensus was deemed reached at mean scores of > 4.00, a near consensus at > 3.5, and no consensus at <3.5. Summary: AD is a chronic relapsing condition with a significant burden of disease, most commonly affecting the pediatric population. The PDS AD Consensus Guidelines summarizes the standards of therapy and the therapeutic ladder in the management of AD based on published clinical trials and literature review. While these modalities remain the cornerstone of therapy, an individualized approach is the key to the holistic management of an AD patient. Knowledge and awareness of frequently associated conditions, whether in the realm of food allergies, contact allergies, or secondary infections, is paramount. In addition to the standard therapeutic armamentarium, the physician must also consider cultural practices and be knowledgeable of alternative therapeutic options. Referral to a specialist is recommended for recalcitrant cases of AD, or when initiation of systemic immunosuppressive agents, phototherapy, or biologic agents is contemplated.