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]

• Anemia

  Here we presented a piebald woman with vaginal atresia who was tested for anemia and diagnosed as CDA type II. Piebaldism and anemia association were previously described in the mouse. [ncbi.nlm.nih.gov]

  B-12 deficiency anemia, including pernicious anemia, is a type of megaloblastic anemia. [medicalnewstoday.com]

  Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption); Anemia - intrinsic factor; Anemia - IF; Anemia - atrophic gastritis; Biermer anemia; Addison anemia Antony AC. [medlineplus.gov]

  Anemia is a medical condition in which the blood is low in normal red blood cells. Pernicious anemia is one of the vitamin B-12 deficiency anemias. [healthline.com]

• Asymptomatic

  The patches were asymptomatic and had remained stable during the last years. No other extracutaneous manifestations were reported. There was no history of consanguinity among the parents. On this basis, a diagnosis of piebaldism was made. Figure 1. [academic.oup.com]

  In high-transmission areas asymptomatic parasitaemia is very common. [malariajournal.biomedcentral.com]

  A 6 year old girl, first child born of non consanguineous marriage presented with asymptomatic white patches on the upper chest which remained stable since their appearance (Fig. 1). The child had no obvious ocular, hearing or neurological defects. [odermatol.com]

  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]

• Inflammation

  lactagogue and emmenagogue. is extensively used to treat inflammation, piles, leucoderma, asthma, tumors, urinary discharge, etc. [freethesaurus.com]

  Inflammation in the area can damage the pigmentation cells. Benign or malignant tumors can shut off the melanocytes in one area of the body. [io9.gizmodo.com]

  For example, Crohn's disease, a long-term condition that causes inflammation of the lining of the digestive system, can sometimes mean your body does not get enough vitamin B12. [nhs.uk]

  Long exposure to sunlight or UV light may cause inflammation, sunburn or cutaneous malignancy. Piebaldism affected persons are advised to use sun protective measures. If the patches are small, cosmetic camouflage makeup may be applied. [dynamicnaturesite.blogspot.com]

  Pernicious anemia is in most cases associated with an inflammation of the stomach called autoimmune gastritis. [britannica.com]

• Developmental Disorder

  ] 14 Diseases of the skin Genetic and developmental disorders affecting the skin EC23 Genetic disorders of skin pigmentation H00170 Piebaldism Pathway hsa04916 Melanogenesis hsa04520 Adherens junction Gene KIT [HSA:3815] [KO:K05091] SNAI2 [HSA:6591] [ [genome.jp]

  Piebaldism occurs in all racial groups and is sometimes associated with developmental disorders like Waaldenburg’s Syndrome. While they may have similar symptoms, piebaldism is very different from albinism. [lybrate.com]

• Dyspnea

  The symptoms may include generalized weakness and fatigue, difficulty breathing (dyspnea), an abnormally rapid heartbeat (tachycardia), and/or chest pains (angina). [rarediseases.org]

  Its clinical features are similar to other changes observed in severe malaria, such as anxiety, dyspnea, tachycardia, diaphoresis, coma and generalized seizures.(34) In some patients, a deterioration in consciousness may be the only sign.(1) Metabolic [scielo.br]

• Failure to Thrive

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Flat face Flat facial shape 0012368 Hepatic failure Liver failure 0001399 Hepatomegaly Enlarged liver 0002240 High forehead 0000348 Jaundice Yellow skin [rarediseases.info.nih.gov]

  Symptoms may include vomiting, diarrhea, fatigue, headache, inability to sleep (insomnia), lack of appetite, failure to thrive, a yellow coloration of the skin (jaundice), irritability, and/or a pale complexion. [rarediseases.org]

• Hearing Impairment

  The syndrome is named for a Dutch eye doctor named Petrus Johannes Waardenburg (1886-1979) who first noticed that people with differently colored eyes often had a hearing impairment. [medicinenet.com]

  A review of systems was negative for hearing impairment, ocular abnormalities, and recurrent infections. Physical examination revealed an otherwise healthy adolescent girl with Fitzpatrick skin type I and homogeneous blue eyes. [mdedge.com]

  impairment Deafness Hearing defect [ more ] 0000365 Heterochromia iridis Different colored eyes 0001100 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Long philtrum 0000343 [rarediseases.info.nih.gov]

  Rena Ellen Falk and Arti Pandya, Hereditary Hearing Impairment, Emery and Rimoin's Principles and Practice of Medical Genetics, 10.1016/B978-0-12-383834-6.00150-6, (1-38), (2013). Yvonne E. Chiu, Stefanie Dugan, Donald Basel and Dawn H. [doi.org]

• Hyperpigmentation

  Well-demarcated hypopigmented macules with areas of hyperpigmentation on trunk, upper extremities, forehead and eyelids with leukotrichia. [academic.oup.com]

  Piebaldism results from defective migration of melanoblasts from neural crest to the ventral mid line thus manifesting dermoscopically as vast areas of depigmentation interspersed with islands of normal skin or hyperpigmentation. [odermatol.com]

  In 80% some colour mismatch (hyperpigmentation and hypopigmentation) was reported between the treated area and the surrounding skin, although this was not disturbing for the majority. [ncbi.nlm.nih.gov]

  In contrast to depigmentation, the pathogenesis and genetic mechanism for development of hyperpigmentation in piebaldism is ill-understood. [ijdvl.com]

• Skin Disease

  Metabolism, Inborn Errors; Piebaldism; Pigmentation Disorders; Skin Diseases, Genetic [documents.irevues.inist.fr]

  Diseases and STIs, Nanjing, Jiangsu, China Abstract: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. [dovepress.com]

  Skin disease Pigmentation disorder Keyword (es) Albinismo Localizado Enfermedad hereditaria Piel patologia Trastorno pigmentacion Classification Pascal 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08F Pigmentary [pascal-francis.inist.fr]

  On DermNet NZ: Waardenburg syndrome Skin pigmentation Leukoderma Other websites: Waardenburg Syndrome Type I – GeneReviews Piebaldism – Medscape Reference Books about skin diseases: See the DermNet NZ bookstore [dermnetnz.org]

• Skin Lesion

  Other skin lesions ranged from solar keratoses to squamous cell carcinomas. CONCLUSION: The majority of pigmented lesions were dendritic freckles that occurred on sun-exposed skin. [ncbi.nlm.nih.gov]

  Usually the achromic skin lesions are in a symmetric pattern. Commonly, islands of normal or hyperpigmented skin are present within and at the border of the depigmented areas, giving the skin a spotted or thumbprint appearance. [clinicaladvisor.com]

  Pseudo contact dermatitis [18] is a condition in which the skin lesion mimics dermatitis clinically or histologically, but the aetiology for the skin lesion is not contact dermatitis. [ijdvl.com]

  For the skin lesion, treatment to improve cosmesis can be sought with a dermatologist or plastic surgeon. [statpearls.com]

  A skin biopsy was obtained from a depigmented lesion of the left upper arm. Basal hypopigmentation was present in the specimen ( Figure 1G ). Figure 1 Skin lesions and histopathology. [dovepress.com]

• Dermatitis

  […] argyriasis NEC 985.8 from drug or medicinal agent Arsenical Atrophia - see also Atrophy alba 709.09 Café au lait spots 709.09 Chloasma 709.09 cachecticorum 709.09 idiopathic 709.09 skin 709.09 symptomatic 709.09 Civatte's disease or poikiloderma 709.09 Dermatitis [icd9data.com]

  Dermatitis Tattoo dermatitis and pseudo tattoo dermatitis Tattoo dermatitis can be allergic contact dermatitis or photoallergic dermatitis commonly due to mercuric sulfide (cinnabar) present in red tattoos. [ijdvl.com]

  Como la sifilis secundaria, la dermatitis de contacto alergica es una gran imitadora pues tiene multiples variantes no eccematosas incluyendo dermatitis de contacto liquenoide, eritema multiforme, hipersensibilidad de contacto dermico similar a una celulitis [freethesaurus.com]

  For hypopigmented lesions associated with inflammatory dermatoses, the underlying dermatitis should be treated. Infectious conditions should be treated as such. [jcasonline.com]

  All cases were characterized by a superficial and/or deep granulomatous dermatitis. Granulomas consisting of epithelioid histiocytes were present in 8 cases. Granulomas with Langhans-type giant cells were also common. [jamanetwork.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]

• Suggestibility

  The apparent clustering of these uncommon mutations at or near the conserved cysteines for the D2 Ig-like loop further suggests a critical role for this region in Kit receptor function. [ncbi.nlm.nih.gov]

  This suggestion has 88 supports and 1 NO support. Edited on 02/09/16 @ 08:13:59 by Xylax (#4) [lioden.com]

• Confusion

  These findings suggest that piebaldism may occasionally include CALM and intertriginous freckling, which may create diagnostic confusion especially in the absence of a family history of piebaldism. [ncbi.nlm.nih.gov]

  Vitiligo Less common conditions that may be confused with vitiligo include: Piebaldism — an autosomal dominant condition in which there is an... [evidence.nhs.uk]

  It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. [scienceopen.com]

  Confusion, tiredness, and pale skin can be symptoms of pernicious anemia. [medicalnewstoday.com]

• Irritability

  Symptoms include weak muscles, numbness, trouble walking, nausea, weight loss, irritability, fatigue, and increased heart rate. Treatment may include vitamin B12 supplements. It is also important to eat a well-balanced diet. [hopkinsmedicine.org]

  Sensory Impairment Loss of smell, taste, touch Irritability/Frustration/Impatience A general feeling of unease. Some patients will try to deal with this by seeking isolation for peace and quiet away from noises, crowds and bright lights. [pernicious-anaemia-society.org]

  Symptoms can include: Confusion Short-term memory loss Depression Loss of balance Numbness and tingling in the hands and feet Problems concentrating Irritability Hallucinations Delusions Optic nerve atrophy The goal of treatment is to increase your vitamin [medlineplus.gov]

  Symptoms may include vomiting, diarrhea, fatigue, headache, inability to sleep (insomnia), lack of appetite, failure to thrive, a yellow coloration of the skin (jaundice), irritability, and/or a pale complexion. [rarediseases.org]

  If the irritation persists there will be invasion of dermoepidermal junction and eventually it leads to malignancy. [ijdvl.com]

• Hyperactivity

  The most common pigment disorders are not disorders of melanin quality, but rather of the pigment-producing cell itself, which may be reduced in number, absent, or hyperactive and commonly, with regional localization. [go.gale.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]

With an aging population, screening for vitamin B12 level as part of anemia and cognitive impairment workup is more common. More cases are diagnosed, resulting in rising incidence of patients with vitamin B12 deficiency. [frontiersin.org]

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]

[…] 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]

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]

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]

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]

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.de]

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.de]

Pathophysiology In pernicious anemia vitamin B12 is unavailable owing to a lack of intrinsic factor, a substance responsible for intestinal absorption of the vitamin. [britannica.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]