Symptoma

Piebaldism

Partial Albinism

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]

Case Report A 14-year-old adolescent girl presented with multiple asymptomatic light-colored patches on the forehead, bilateral arms, and legs that had been present since birth. [mdedge.com]

  • 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]

  • 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]

  • 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]

    Waardenburg syndrome: A genetic disorder that causes deafness, white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, and wide-set inner corners of the [medicinenet.com]

    Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. [arl4.library.sk]

    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]

A dermatologist can help in the initial diagnostic workup to determine the cause (Wood's lamp evaluation, biopsy), the extent of lesions, and the presence of extracutaneous manifestations. [statpearls.com]

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]

In the absence of a positive family history for TSC or additional symptoms, further workup is unnecessary.184 5.1 Assessment A suspected diagnosis of Piebaldism or WS should be accompanied by a thorough history and physical examination (Figure 3). [onlinelibrary.wiley.com]

[…] 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]

Thus, pernicious anemia must be differentiated from other disorders that interfere with the absorption and metabolism of vitamin B-12 (see DDx and Workup). [emedicine.medscape.com]

According to the patients, final repigmentation was achieved after a mean of 10 months post-treatment. [ncbi.nlm.nih.gov]

[…] 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]

PCWH) Tietz syndrome The differential diagnosis also includes the following disorders of hypopigmentation and/or melanocyte destruction[1]: Vitiligo Nevus anemicus Nevus depigmentosus Tuberous sclerosis Hypomelanosis of Ito Chromosome 4q12q21 deletions Prognosis [statpearls.com]

[…] 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]

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]

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]

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 Network ISSN (Electronic): 1937-8688 Publication date (Electronic [scienceopen.com]

Epidemiology Piebaldism is a rare inherited disorder with an estimated incidence of less than 1 in 20000 individuals.[3] Both males and females are affected equally. There is no known racial predilection. [statpearls.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]

Summary Epidemiology The estimated incidence for PBD-ZSS is 1/50,000 births in the United States and 1/500,000 births in Japan. [orpha.net]

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]

Pathophysiology The most common cause of piebaldism is a mutation in the KIT proto-oncogene. [statpearls.com]

The pigmentary system: physiology and pathophysiology. 2. ed. Malden, Oxford, Carlton: Blackwell Publishing; 2006: 1003-1006. 19 Lepe V, Moncada B, Castanedo-Cazares JP. et al. [thieme-connect.com]

Those with piebaldism are at risk for sunburn and are encouraged to use sunscreen and other protective measures to prevent skin damage. [medicalnewstoday.com]

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