Janniger Ck

Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients.

The Tuberous Sclerosis Complex 1998 Consensus Conference clinical criteria represent an important advance in the diagnosis of tuberous sclerosis complex. Since many findings regarded as highly specific for tuberous sclerosis complex are not apparent until late childhood or adulthood, refinements by age may prove of value. We have stratified 106 children into five age groups (0 to 2 years of age, above 2 to 5 years, above 5 to 9 years, above 9 to 14 years, and above 14 to 18 years). Physicians should be alerted as to the frequency of the criteria in different stages of children. (J Child Neurol 2000;15:652-659).

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas.

Childhood molluscum contagiosum

Molluscum contagiosum is a poxvirus infection of the skin that affects healthy school aged as well as immunocompromised children. The infection is a vexing one, because of the difficulty of treatment. This article reviews the most current pathophysiology of this viral illness and available therapeutic options. Molluscum contagiosum is a highly contagious viral infection of the mucous membranes and skin, commonly seen in children. Incidence has increased by up to 20% worldwide with the trend increasing in the United States. 1–5 Immunocompromised children ages 2–11 years are most commonly infected, 5,6 while those with immunodeficiency, including acquired immunodeficiency syndrome and leukemia, may be more likely to develop extensive disease. 7–9 In human immunodeficiency virus (HIV) patients, the disseminated form can be indicative of advanced immunodeficiency state. 3,9

Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth.

Klippel–Trenaunay syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Appropriate evaluation and treatment of children displaying features of the disease may minimize morbidity. The clinical appearance, etiology, genetics, diagnostics, and treatment of Klippel–Trenaunay syndrome are herein explored.

Piebaldism: an update

Piebaldism is characterized by the congenital absence of melanocytes in affected areas of the skin and hair, due to mutations of the kit proto-oncogene, which affects the differentiation and migration of melanoblasts. It is inherited as an autosomal dominant trait and manifests as a white forelock and patches of depigmentation. Its first descriptions date back to early Egyptian, Greek and Roman writings and it has been observed throughout history in families with a distinctive, predictable congenital white forelock. 1 It is usually a benign isolated skin condition but it is permanent, may be socially disabling, and treatment is a challenge.

Insect sting reactions to bees, wasps, and ants

Arthropod bites and stings are capable of inflicting injury, inciting allergic reactions, and transmitting systemic disease. Members of the Hymenoptera order are of particular importance because they are nearly ubiquitous in nature, and their stings may cause life‐threatening allergic reactions. Stings from bees, wasps, and ants produce a variety of clinical and histological manifestations. Anaphylaxis following an insect sting is the most serious complication. For individuals with a specific allergy to Hymenoptera venom, immunotherapy may be a relatively safe and effective treatment option.

Pityriasis rosea: An important papulosquamous disorder

Pityriasis rosea (PR) is a mild, self‐limited skin disease of unknown etiology. Viral and bacterial causes have been considered as possible causes. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of salmon‐pink scaly macules which, when localized to the trunk, form along Langers lines of cleavage. Pityriasis rosea may be difficult to diagnose until the appearance of these characteristic smaller secondary lesions. Several medications can cause a rash similar to PR. Pityriasis rosea must be distinguished from several diseases, including secondary syphilis. The treatment of PR is usually symptomatic.

X-linked ichthyosis: An oculocutaneous genodermatosis

X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident during the first few weeks of life as polygonal, loosely adherent translucent scales in a generalized distribution that desquamate widely. These are quickly replaced by large, dark brown, tightly adherent scales occurring primarily symmetrically on the extensor surfaces and the side of the trunk. In addition, extracutaneous manifestations such as corneal opacities, cryptorchidism, and abnormalities related to contiguous gene syndromes may be observed. Diagnosis of XLI is usually made clinically, as the histopathology is nonspecific, but confirmation may be obtained through either biochemical or genetic analysis. Treatment should focus on cutaneous hydration, lubrication, and keratolysis and includes topical moisturizers and topical retinoids.

Impetigo: an update.

Impetigo, a bacterial infection of the superficial layers of the epidermis, is a common childhood disorder. 1–7 The bacteria responsible are group A beta-hemolytic streptococcus, Staphylococcus aureus , or often a combination of the two. Impetigo has three clinical varieties: impetigo contagiosa, common impetigo, and bullous impetigo. Features of all three types of impetigo, however, may coexist in any individual patient.

Tinea versicolor: Tinea versicolorReview

Tinea versicolor is one of the most common disorders of pigmentation in the USA and the world. It is a cutaneous, superficial fungal infection characterized by skin pigmentary changes due to colonization of the stratum corneum by a dimorphic lipophilic fungus in the normal flora of the skin known as Malassezia furfur.1,2 The yeast phase of this organism has two morphologically discrete forms: an ovoid form, Pityrosporum ovale, and a spherical form, Pityrosporum orbiculare. Tinea versicolor is also known as pityriasis versicolor and less commonly as dermatomycosis furfuracea, tinea flava, or achromia parasitica. It has a worldwide distribution, but is more common in the tropics due to the relative high temperature and humidity. Previously thought to be a post-pubertal disease, evidence has shown that tinea versicolor is not uncommon in children.1 Currently, advances are being made in the therapy of this infection as the focus shifts from topical to systemic antifungals.