China
Africa
Explore chapters and articles related to this topic
Special Locations
Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Anna Waśkiel-Burnat, Lidia Rudnicka, Małgorzata Olszewska, Adriana Rakowska, Ralph M. Trüeb, Isabel Kolm
Trichorrhexis nodosa (Figure 11e.27) refers to white knots with transverse fractures along the hair shaft. Trichoscopy reveals brush-like hair fracturing. In general, trichorrhexis nodosa is a nonspecific finding related to excess external stress on the hair. While it may be seen in some genetic hair shaft disorders, it is most frequently a consequence of hair weathering.51
Argininosuccinic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
As in the case of other disorders of the urea cycle (Chapter 26 [ornithine transcarbamylase deficiency], Chapter 27 [carbamylphosphate synthetase deficiency], Chapter 28 [citrullinemia]), argininosuccinic aciduria is genetically heterogeneous and patients with variant forms of the enzyme, in which there is partial residual activity, may have more indolent forms of the disease [19]. Such patients may present simply with impaired mental development [3, 20] or a convulsive disorder. Commonly, there is episodic disease, such as cyclic vomiting or recurrent headache, ataxia, tremulousness, or lethargy. The classic, and most common phenotype is the neonatal form, with rapid progression to coma in the first days of life. In a subacute or late-onset type, the disease becomes manifest in late infancy or childhood [7, 20]. They may survive with impaired mental development, or seizures. Movement disorders are prominent in about one third of patients [21]. Some have trichorrhexis nodosa. One patient reported at 30 years [19], presented at ten years of age with intention tremor. There was no hyperammonemia or encephalopathy. He was described as having mildly impaired mental development, but had attended regular school, could read, write, drive a car, work in a factory, and father a son.
Trichoscopy
Published in Aimilios Lallas, Zoe Apalla, Elizabeth Lazaridou, Dimitrios Ioannides, Theodosia Gkentsidi, Christina Fotiadou, Theocharis-Nektarios Kirtsios, Eirini Kyrmanidou, Konstantinos Lallas, Chryssoula Papageorgiou, Dermatoscopy A–Z, 2019
Aimilios Lallas, Zoe Apalla, Elizabeth Lazaridou, Dimitrios Ioannides, Theodosia Gkentsidi, Christina Fotiadou, Theocharis-Nektarios Kirtsios, Eirini Kyrmanidou, Konstantinos Lallas, Chryssoula Papageorgiou
Trichorrhexis nodosa is a common congenital, familial, or acquired hair shaft anomaly, characterized by the presence of one or more hypopigmented/white swellings (nodes) on the hair shaft, with loss of cuticle. Trichoscopy highlights the characteristic morphology of the node, in which the cortical fibers splay outward and fracture. Occasionally, the latter gives the node the dermatoscopic appearance of two brooms thrust together end to end (Figure 8.58). Complete rupture of the hair shaft at this site is the rule.
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)
Published in Immunological Investigations, 2021
Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, Sepideh Shahkarami, Samaneh Zoghi, Arezoo Rezaei, Zahra Aryan, Mehri Najafi, Meino Rohlfs, Tim Jeske, Majid Aflatoonian, Zahra Chavoshzadeh, Fatemeh Farahmand, Farzaneh Motamed, Pejman Rohani, Hossein Alimadadi, Alireza Mahdaviani, Mahboubeh Mansouri, Marzieh Tavakol, Mirjam Vanderberg, Daniel Kotlarz, Christoph Klein, Nima Rezaei
P6-P10 had single gene mutations associated with maintenance of gut epithelial barrier and infantile syndromic diarrhea. P6 and P7 were sisters with identical homozygous mutations in the TTC7A gene (Avitzur et al. 2014), who presented with severe diarrhea early after birth along with evidence of severe apoptotic colitis, but no apparent immunodeficiency or intestinal atresia similar to what has been reported in patients with TTC7A deficiency before (Broome et al. 2019; Lien et al. 2017). The A832 T mutation results in amino acid substitution in a highly conserved site for mutation in TTC7A, the tetratricopeptide repeat domain. This has proved to be deleterious to protein plasma membrane expression and intracellular singling (Avitzur et al. 2014). Despite reports showing that homozygous variants of TTC7A often prove fatal in early childhood (Broome et al. 2019), P7 is alive at 8 years old and doing well on hypoallergenic, and dairy and nuts restricted diet, and parenteral nutrition. Patient P8 similarly presented with a typical syndromic diarrhea phenotype and had a mutation in the TTC37 gene which has been associated with the THES syndrome type 1 in the literature (Hartley et al. 2010; Rider et al. 2015). THES is characterized by a classic pentad of intractable diarrhea, facial dysmorphism, trichorrhexis nodosa, immune abnormalities, and growth retardation (A. Fabre et al. 1993), although several patients have been described with atypical forms including predominance of IBD-like features, or combined immunodeficiency associated with late-onset diarrhea (Busoni et al. 2017; Hosking et al. 2018; Vely et al. 2018). The classic pentad of THES was absent in our patient, who instead presented with refractory metabolic acidosis, severe vomiting and diarrhea and pre and postnatal growth delay. He was born at 35 weeks of gestation with a birth weight of 1500 g and is currently a 7-year-old boy with developmental delay and weight and height both below 10th percentile. P9 had a novel mutation in NOX1 gene, which was associated with VEO-IBD in two other patients (Hayes et al. 2015; Lipinski et al. 2019; Schwerd et al. 2018). NADPH oxidase is crucial to maintain gut epithelial barrier towards microbiota through generation of superoxide species and modulation of colonic epithelial proliferation and postmitotic differentiation (Coant et al. 2010; Kawahara et al. 2004). The importance of the reactive oxygen species generated by the NADPH oxidase system in gut barrier function is further exemplified by a higher prevalence of IBD-like symptoms in CGD, which is caused by inactivating mutations in components of the phagocyte NADPH oxidase complex (Uhlig 2013). Between 40% and 74% of patients with CGD develop IBD, often with CD-like phenotype and with symptom onset above 2 years old (Khangura et al. 2016; Marks et al. 2009).