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]

• 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]

• Developmental Delay

  Piebaldism in children with developmental delay and dysmorphic features should alert the physician to the possibility of a deletion of the long arm of chromosome 4. View graph of relations [rug.nl]

  Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder. [journals.lww.com]

  Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. [rarediseases.info.nih.gov]

  There was no developmental delay or hearing loss. [rasopathiesnet.org]

  While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth. [ncbi.nlm.nih.gov]

• Surgical Procedure

  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]

  Dermabrasion and thin split-skin grafts are preferred surgical procedures. Autologous punch grafting for regimentation in piebaldism is considered in selected individuals. [askdrshah.com]

  Dermabrasion and thin split-skin grafts are preferred surgical procedures. Autologous punch grafting for regimentation in piebaldism is considered in selected individuals. Best Homeopathic Doctor & Treatment for Piebaldism in India. [homeodoctor.co.in]

  For example, a gastrectomy, a surgical procedure where part of your stomach is removed, increases your risk of developing a vitamin B12 deficiency. [nhs.uk]

  Medical Treatment Surgical procedures Physical modalities PUVA Noncultured epidermal rafting Cosmetic camouflage Variable results (generally not responsive) Cultured epithelial grafts Melanocyte cultures PUVA, psoralen plus ultraviolet A. [dermatologyadvisor.com]

• Rigor

  To date, SPRED1 mutations and Legius syndrome have not been associated with neurofibromas and other tumors, suggesting that piebaldism patients with multiple CALMs and axillary or inguinal freckling may not need the rigorous monitoring that NF1 patients [rasopathiesnet.org]

  Always present at birth, white patches are characterized by rigorous symmetry and affect mostly the face, anterior portion of the thorax and abdomen, arms, forearms, legs, and thighs. [scielo.br]

  The hemozoin and other toxic factors such as glucose phosphate isomerase (GPI) stimulate macrophages and other cells to produce cytokines and other soluble factors which act to produce fever and rigors and probably influence other severe pathophysiology [cdc.gov]

• Pallor

  Symptoms Symptoms of pernicious anemia include fatigue, weakness, waxy pallor, shortness of breath, rapid heartbeat, unsteady gait, smooth tongue, gastrointestinal disturbances, and neurological problems. [britannica.com]

  […] tongue Large tongue [ more ] 0000158 Malar flattening Zygomatic flattening 0000272 Metatarsus adductus Front half of foot turns inward 0001840 Muscular hypotonia Low or weak muscle tone 0001252 Opacification of the corneal stroma 0007759 Optic disc pallor [rarediseases.info.nih.gov]

  Signs & Symptoms Symptoms of pernicious anemia may include fatigue, shortness of breath, rapid heart rate, jaundice or pallor, tingling and numbness of hands and feet, loss of appetite, diarrhea, unsteadiness when walking, bleeding gums, impaired sense [rarediseases.org]

  170 Segmental: Rapid onset then stabilizes; asymmetrical, trigeminal, and thoracic are frequent sites; involved segments do not cross midline Nonsegmental: Progressive with flares; symmetrical Nevus anemicus Irregular borders, interspersed normal; pallor [onlinelibrary.wiley.com]

• 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]

• Macrocephaly

  There was relative macrocephaly; head circumference was 50 th percentile, while height and weight were 25 th percentile. KIT gene testing was performed, and a novel missense mutation was detected in the intracellular tyrosine kinase domain. [rasopathiesnet.org]

  Legius syndrome is a milder phenotype of NF1 presenting with multiple cafe-au-lait macules, axillary or inguinal freckles, macrocephaly and learning difficulties but lacks many typical NF1 findings such as neurofibromas, optic gliomas and Lisch nodules [ijdvl.com]

  Clitoral hypertrophy Enlarged clitoris 0008665 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Flat occiput 0005469 High palate Elevated palate Increased palatal height [ more ] 0000218 Hydronephrosis 0000126 Hypospadias 0000047 Macrocephaly [rarediseases.info.nih.gov]

  […] associated with dominant‐negative mutations in MITF or pathogenic variants that prevent LEF‐1 site activation (eg, MITF p.R217I).103-105 Homozygous mutations in MITF also result in a severe phenotype characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly [onlinelibrary.wiley.com]

• Piebaldism

  The classic type of static piebaldism is due to c-kit gene mutations in the vicinity of codon 620. The incidence of piebaldism is estimated to be less than 1:20000. [ncbi.nlm.nih.gov]

  Genetic analysis of genomic DNA from both the mother and daughter with progressive piebaldism revealed a novel Val620Ala (1859T>C) mutation in the KIT gene, which was not detected in family members without progressive piebaldism or in 52 normal control [scienceopen.com]

• 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]

• Freckles

  We report the case of a 5-year-old boy who had the white forelock and leukoderma of piebaldism, but the presence of many café-au-lait macules and axillary and inguinal freckling complicated the diagnosis. [ncbi.nlm.nih.gov]

  Additionally, he had started to develop multiple café-au-lait macules (CALMs) and freckling of the axillae and inguinal folds. [rasopathiesnet.org]

• 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]

• Hypopigmented Macule

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

  Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead. [dbpedia.org]

  Hypopigmented (off-white) lesions include segmental hypomelanosis, confetti-like hypopigmented macules, ash-leaf macules. Tinea versicolor: Cutaneous fungal dermatosis caused by Malassezia furfur. [dermatologyadvisor.com]

  […] similar findings.183 d The prevalence of hypopigmented macules in the healthy population is approximately 5%; however, they can also be the initial manifestation of TSC. [onlinelibrary.wiley.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]

• Delayed Milestone

  On examination, the child had doll like face, fat cheeks, short stature, relatively thin extremities, protuberant abdomen, delayed milestones. Deafness was absent. He was underweight and stunted. [indianpediatrics.net]

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]

Piebald skin does not respond to medical or UV-light treatments intended for generalised vitiligo. The only treatment available for Piebaldism is transplantation of melanocytes (pigment cells). [vitiligocenter.eu]

[…] 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.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]

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]