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Piebaldism
Partial Albinism
Presentation
- We present a case of a 10-year-old girl with a typical clinical presentation, followed by a concise review of the literature discussing the etiology, clinical features, diagnosis, and management of the condition.[ncbi.nlm.nih.gov]
- A 46-year-old man presented with a history of a congenital pigment disorder. On physical examination hypopigmented and depigmented patches were present on the mid-forehead, anterior chest, and extremities.[ncbi.nlm.nih.gov]
- We present the case of a 14-year-old adolescent girl with piebaldism, along with a review of the pathogenesis, diagnosis, and management of this disease entity.[ncbi.nlm.nih.gov]
- Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.[ncbi.nlm.nih.gov]
- A syndrome of piebaldism and mild to moderate mental retardation was present in 3 sibs and their father. Besides, the disorder was segregating concordantly with a t(1;2) (p22.1;q36).[ncbi.nlm.nih.gov]
Entire Body System
Multiple Congenital Anomalies
- Abstract A young girl is reported suffering from multiple congenital anomalies typical of Rubinstein-Taybi syndrome, in association with cutaneous lesions of piebaldism and occipital poliosis.[ncbi.nlm.nih.gov]
- Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA[ncbi.nlm.nih.gov]
- congenital anomalies, short stature and mental retardation.[AtlasGeneticsOncology.org]
Musculoskeletal
Dolichocephaly
- We expand the phenotype to include dolichocephaly, pectus excavatum, hip dysplasia, pes planus, myopia, lens opacities, and an absence of spoken language but not of communication through sign.[ncbi.nlm.nih.gov]
Skin
Photosensitivity
- Syndrome With Uncommon Clinical Manifestations Confirmed on Genetic Testing Author: Wu Jian-Bing, MD Li Cheng-Rang, MD Ma Yi-Ping, MD Sheng Nan, MS Li Hui, MD Lin Lin, MD Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity[mdedge.com]
Anhidrosis
- […] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org]
Eyes
Heterochromia Iridis
- iridis Different colored eyes 0001100 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of[rarediseases.info.nih.gov]
- Fatal within the first decade of life Waardenburg’s sydnrome (types 1-4): white patches of skin, congenital deafness, heterochromia iridis, dystopia canthorum.[dermatologyadvisor.com]
Workup
- Laboratory workup revealed haemoglobin 10g/dL, complete blood count including differential count, platelet count, bleeding time and coagulation profile were within normal limits. Random blood glucose level was 46 mg/dL.[indianpediatrics.net]
- […] patient with HPS with cutaneous granulomatous disease; a 9-year-old Puerto Rican girl with HPS developed granulomatous colitis and subsequently an erosive genital and peristomal eruption, which on biopsy showed nonnecrotizing granulomas. 1 An infectious workup[jamanetwork.com]
Serum
Erythroblast
- CDA type II, also known as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is the most frequent one.[ncbi.nlm.nih.gov]
Treatment
- According to the patients, final repigmentation was achieved after a mean of 10 months post-treatment.[ncbi.nlm.nih.gov]
- BACKGROUND: Several surgical techniques have been proposed for the treatment of piebaldism. These procedures, however, are poorly suited for the treatment of large leucodermal lesions, can cause scars and require multiple donor sites.[ncbi.nlm.nih.gov]
- BACKGROUND: Autologous noncultured cell suspension transplantation is an effective treatment for repigmentation in segmental vitiligo and piebaldism.[ncbi.nlm.nih.gov]
- Piebaldism is a rare genodermatosis in which depigmented skin areas are unresponsive to topical or light treatment.[ncbi.nlm.nih.gov]
- After the transplantation, UV-treatment according to the standard treatment protocol of the NIPD will be started on all sites and continued for 3 months.[clinicaltrials.gov]
Prognosis
- […] hairbulbs in the white patches of hair; occasionally, individuals lack ganglion cells of the intestinal enteric neural plexus, which like melanoblasts, are derived from the neural crest Neoplastic risk an increased risk of epithelioma has been reported Prognosis[AtlasGeneticsOncology.org]
- […] and auburn hair color was documented in a Chinese Han family. [14] Etiology Piebaldism is a rare autosomal dominant genetic disorder Basically, it is a complex interconnecting regulatory network of mutated genes and synergistic interactions. [6, 15] Prognosis[emedicine.medscape.com]
Etiology
- We present a case of a 10-year-old girl with a typical clinical presentation, followed by a concise review of the literature discussing the etiology, clinical features, diagnosis, and management of the condition.[ncbi.nlm.nih.gov]
- […] constipation; a hierarchical correlation has been elaborated between severe or mild phenotypic traits and the associated KIT mutations; in a few patients with interstitial deletions mental retardation and congenital anomalies have been also described etiology[AtlasGeneticsOncology.org]
- The congenital facial diplegia syndrome: clinical features, pathology and etiology. Brain. 1939 Dec;62(4):381-403. (18.) Möbius PJ. [Uber angeborene doppelseitige Abducens-Facialis-lähmung]. Munch Med Wochenschr. 1888;35:91-4. German. (19.)[aprendeenlinea.udea.edu.co]
- Introduction, epidemiology, quality of life, diagnosis, differential diagnosis, associations, histopathology, etiology, and work-up. J Am Acad Dermatol. 2011 Sep;65(3):473-491. doi: 10.1016/j.jaad.2010.11.061. Review.[clinicaltrials.gov]
Epidemiology
- Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
- Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc Journal Journal ID (nlm-ta): Pan Afr Med J Journal ID (iso-abbrev): Pan Afr Med J Journal ID (publisher-id): PAMJ Title: The Pan African Medical Journal Publisher: The African Field Epidemiology[scienceopen.com]
- Introduction, epidemiology, quality of life, diagnosis, differential diagnosis, associations, histopathology, etiology, and work-up. J Am Acad Dermatol. 2011 Sep;65(3):473-491. doi: 10.1016/j.jaad.2010.11.061. Review.[clinicaltrials.gov]
- We also briefly review the literature, and discuss the epidemiology, risk factors, TNM staging, therapeutic modalities, and prognosis for patients with MBCC.[f1000research.com]
Sex distribution
Age distribution
Pathophysiology
- These findings may offer new insight into the pathophysiology of this disorder.[ncbi.nlm.nih.gov]
- The pigmentary system: physiology and pathophysiology. 2006. pp. 541-50.[dermatologyadvisor.com]
- […] causes piebaldism and a second, unknown locus that causes progressive depigmentation. [4] Piebaldism is one of the cutaneous signs of Waardenburg syndrome, along with heterochromia of the irides, lateral displacement of inner canthi, and deafness. [5] Pathophysiology[emedicine.medscape.com]
Prevention
- Those with piebaldism are at risk for sunburn and are encouraged to use sunscreen and other protective measures to prevent skin damage.[medicalnewstoday.com]
- The investigators hypothesize that more superficial conventional ablative laser treatment and fractional ablative laser treatment are as effective as the current pre-treatment, whereas these treatments are less invasive, provide faster healing and prevent[clinicaltrials.gov]