We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a ...

Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the central nervous system (CNS). It is suggested that this pattern arises from the presence and migration of two cell lineages in the ectoderm layer during the emb...

Constructive machine learning can frequently be formulated in the setting of structured prediction. Structured prediction is typically modeled using a compatibility function between inputs and outputs and a decoding step, in which an optimization over the compatibility function with respect to the output is performed. When the compatibility function is equivalent to an (unnormalized) probabilit...

We develop a structured output model for object category detection that explicitly accounts for alignment, multiple aspects and partial truncation in both training and inference. The model is formulated as large margin learning with latent variables and slack rescaling, and both training and inference are computationally efficient. We make the following contributions: (i) we note that extending...

The scheme of biosynthesis of noradrenaline from dopa in the mammalian tissues was presented by Blaschko (1). The conversion of dopamine to noradrenaline, mediated by dopamine-Q-hydroxylase (2), was shown to occur in the intracellular granules of the adrenal medulla (3) and heart (4, 5). The administration of tyrosine-14C (6) or dopa 14C (7 , 8) to rats results in formation of noradrenaline-14C...

T HE CURRENT STUDY was suggested by the observation that various substances are capable of potentiating the inotropic response of the papillary muscle to epinephrine. The object of the study has been to obtain information about the nature of the action by which such substances as cysteine, cystine, tyrosine, ascorbic acid, and plasma are capable of producing this potentiation. Four possible sit...

Patterns form with the break of homogeneity and lead to the emergence of new structure or arrangement. There are different physiological and pathological mechanisms that lead to the formation of patterns. Here, we first introduce the basics of pattern formation and their possible biological basis. We then discuss different categories of skin patterns and their potential underlying molecular mec...

OBJECTIVE To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP). DESIGN Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999. SETTING The private or institutional practice of participating dermatologists and pediatricians. MAIN OUT...

The semicarbazide-sensitive amine oxidases (SSAOs) are grouped together under the Enzyme Commission classification, EC 1.4.3.6 [amine: oxygen oxidoreductase (deaminating) (copper containing)] and have a history dating back to the discovery of histaminase by Best in 1929 [l]. This enzyme was subsequently renamed diamine oxidase (DAO), to help establish its separate identity from monoamine oxidas...

Porokeratosis is a rare genodermatosis based on chronic keratinization disorder histologically characterized by the presence of a cornoid lamella and various clinical manifestations. Five most commonly described types of poroketarosis are porokeratosis of Mibelli or ”classic” porokeratosis, disseminated superfi cial actinic porokeratosis, disseminated palmoplantar porokeratosis, linear porokera...