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]

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. [mdedge.com]

Woolf syndrome is an autosomal recessive disorder presenting with piebaldism and deafness [5]. [escholarship.org]

• Decrease in Height

  […] muscle tone 0006829 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Very long chain fatty acid accumulation 0008167 Wide [rarediseases.info.nih.gov]

• Skin Patch

  Top layers of the skin and hair are affected with this disease that results in white patches that may expand. Symptoms of Piebaldism Patients of Piebaldism often suffer from white patch on the forehead and skin. [nidanam.com]

  The absence of melanocytes develop depigmented patches on the skin and hair coloring. Approximately 90 percent of those affected have a section of white hair near your front hairline. [ivami.com]

  Other features include a white patch on the central portion of the forehead; white eyebrow and eyelash hair; and white patches of skin on the face (particularly the chin), trunk and extremities (hands and feet are not usually affected). [rarediseases.info.nih.gov]

  They also have patches of color or lost color on the hair, skin, and eyes. Type 2 Hearing loss is more common in type 2 than type 1, with about 50 percent of people losing their hearing. [medicalnewstoday.com]

• 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]

• Heterochromia Iridis

  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]

  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]

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]

Piebaldism is a rare genodermatosis in which depigmented skin areas are unresponsive to topical or light treatment. [ncbi.nlm.nih.gov]

Piebaldism treatments include dermabrasion and split-skin grafting. The split-skin grafting treatment followed by minigrafting treatment gives appreciable results. [dynamicnaturesite.blogspot.com]

[…] 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]

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. [mdedge.com]

Etiology The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. [orpha.net]

[…] 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]

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]

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]

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]

Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 2003; 16: 208-214. 2 Barona MI, Arrunátegui A, Falabella R, Alzate A. [thieme-connect.com]

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]

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]

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

Intermittent preventive treatment for the prevention of malaria during pregnancy in high transmission areas. Malar J. 2007 Dec 4. 6:160. [Medline]. [Full Text]. Trape JF, Tall A, Diagne N, et al. [medscape.com]

Antimalarial drugs Antimalarial medicines can also be used to prevent malaria. For travellers, malaria can be prevented through chemoprophylaxis, which suppresses the blood stage of malaria infections, thereby preventing malaria disease. [who.int]

Can pernicious anemia/vitamin B-12 deficiency be prevented? The autoimmune process that causes pernicious anemia cannot be prevented. [medicinenet.com]