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Indian Dermatology Online Journal 2023Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with...
Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of gene with no pathogenic variants of or gene. Our current understanding of the tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.
PubMed: 37089832
DOI: 10.4103/idoj.idoj_368_22 -
Indian Journal of Pediatrics Feb 2023
Topics: Humans; Microscopy; Piebaldism; Pigmentation Disorders; Hair; Immunologic Deficiency Syndromes
PubMed: 36512299
DOI: 10.1007/s12098-022-04422-7 -
Frontiers in Pediatrics 2022We report the case of a girl aged 2 years and 10 months who had fever for 2 days, vomiting, poor mental status for 1 day, and one episode of convulsions.
CASE PRESENTATION
We report the case of a girl aged 2 years and 10 months who had fever for 2 days, vomiting, poor mental status for 1 day, and one episode of convulsions.
SYMPTOMS AND SIGNS
The patient experienced a rapid onset of symptoms with fever, vomiting, and convulsions. Upon physical examination on admission, she presented with the following: temperature 38.6°C; pulse 185 beats/min; respiration 49 beats/min; blood pressure 89/51 mmHg; drowsiness; piebald skin all over her body; rice-grain-sized pustular rashes scattered on the front chest and both lower limbs, protruding from the surface of the skin; bilateral pupils that were equal in size and a circle with a diameter of about 3.0 mm, and slow light reflex; cyanotic lips; shortness of breath; positive for the three-concave sign; a small amount of phlegm that could be heard in both lungs; capillary refill time of 5 s; cold extremities; and a positive Babinski sign.
DIAGNOSTIC METHOD
A chest computed tomography scan showed multiple nodular and flake-like high-density shadows of varying sizes in each lobe in bilateral lungs, and a cavity with blurred edges could be seen in some nodules. A cranial magnetic resonance imaging examination demonstrated that the hyperintensity of diffusion-weighted imaging could be observed on the left cerebellar hemisphere and left parietal blade. Blood cultures, sputum, cerebrospinal fluid, and bronchoalveolar lavage fluid (BALF) by fiberoptic bronchoscopy all indicated the growth of methicillin-resistant (MRSA).
TREATMENT METHODS
After admission, the child was given meropenem combined with vancomycin, cefoperazone sulbactam combined with rifamycin, linezolid (oral) for anti-infection successively, and other adjuvant therapies.
CLINICAL OUTCOMES
The patient recovered clinically and was discharged from our hospital.
RECOMMENDED READERS
Neurology; Respiratory Medicine; Infectious Diseases Department.
PubMed: 36568437
DOI: 10.3389/fped.2022.1045774 -
Acta Dermato-venereologica Jul 2021The aim of this study was to assess the efficacy of non-cultured autologous epidermal cell grafting resuspended in hyaluronic acid, performed using a ready-to-use kit,... (Randomized Controlled Trial)
Randomized Controlled Trial
Assessment of Non-cultured Autologous Epidermal Cell Grafting Resuspended in Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism Lesions: A Randomized Clinical Trial.
The aim of this study was to assess the efficacy of non-cultured autologous epidermal cell grafting resuspended in hyaluronic acid, performed using a ready-to-use kit, compared with hyaluronic acid alone (neutral comparator) for repigmenting vitiligo and piebaldism lesions at 6 months. Two identified paired lesions per patient were randomized to be treated by either device. Devices with a ready-to-use kit were prepared by separate health professionals, to maintain blinding. A skin biopsy was digested using trypsin, and cells resuspended in hyaluronic acid solution. Among 38 patients screened, 36 (94.7%) patients, corresponding to 72 lesions, were analysed. For difficult-to-treat lesions, defined as those located on the wrist, elbow, and hands (n = 30), no repigmentation ≥ 50% was observed. For all other locations (n = 42), the success rate was significantly higher (p = 0.021) in the ready-to-use kit group (47.6% vs 9.5%) at 6 months and was maintained until 12 months. In conclusion, a single application of non-cultured epidermal cellular grafting using a ready-to-use kit was efficient at 6 months and at 1-year follow-up.
Topics: Epidermal Cells; Humans; Hyaluronic Acid; Piebaldism; Skin Pigmentation; Skin Transplantation; Transplantation, Autologous; Treatment Outcome; Vitiligo
PubMed: 34230975
DOI: 10.2340/00015555-3870 -
Revista de Neurologia Sep 2023
Topics: Humans; Cerebellar Ataxia; Lymphohistiocytosis, Hemophagocytic; Piebaldism; Primary Immunodeficiency Diseases; Acute Disease
PubMed: 37668236
DOI: 10.33588/rn.7706.2023195 -
Research in Veterinary Science Aug 2020First references of the endangered autochthonous Majorcan Ca Mè dog date from the 13th century and enhance its skills and adaptability to the orography. Genealogical...
First references of the endangered autochthonous Majorcan Ca Mè dog date from the 13th century and enhance its skills and adaptability to the orography. Genealogical historical records were traced back to founders. Founder number in the reference population (397), maximum generations traced, and average number of complete generations were 32, 5, and 2.75, respectively. Structure assessment revealed the existence of subpopulations regarding criteria such as owners (402), breeders (55), coat colours (liver, lemon, black and orange) and spotting patterns (piebald, roan, solid colour, tie or star presence). Average inbreeding (F) within colour groups ranged from 6.3-10.4%, for orange and black populations, respectively. F ranged from 9.43-12.22% for roan patterns and star presence, respectively. Tan point markings showed an F coefficient of 5.85%. The study of genetic diversity revealed a slightly different genetic background between subpopulations. Average coancestry between and within coat colours suggested orange and roan traits could be ascribed to the original nuclei, without omitting the high relationships among other subpopulations. Breeding strategy should select breeding pairs holding a relatedness coefficient below 15%. Hence, coat patterns in dog breeds can help preserving the genetic diversity in endangered dogs, even when these are geographically isolated.
Topics: Animals; Breeding; Dogs; Genetic Background; Genetic Variation; Inbreeding; Pedigree; Phenotype; Pigmentation
PubMed: 32334156
DOI: 10.1016/j.rvsc.2020.04.003 -
Journal of Clinical Laboratory Analysis Jun 2024Piebaldism is a rare autosomal dominant disorder characterized by congenital white forelock and depigmented patches, which is most commonly caused by deleterious...
INTRODUCTION
Piebaldism is a rare autosomal dominant disorder characterized by congenital white forelock and depigmented patches, which is most commonly caused by deleterious variants in the KIT gene.
METHODS
Four KIT variants were identified in a piebaldism case series by whole-exome sequencing. Functional experiments, including in vitro minigene reporter assay and enzyme-linked immunosorbent assay, were carried out to elucidate the pathogenicity of the variants. The genotype-phenotype correlation was summarized through extensive literature reviewing.
RESULTS
All the four cases had severe piebaldism presented with typical white forelock and diffuse depigmentation on the ventral trunk and limbs. Four germline variants at the tyrosine kinase (TK) domains of the KIT gene were identified: two novel variants c.1990+1G>A (p.Pro627_Gly664delinsArg) and c.2716T>C (p.Cys906Arg), and two known variants c.1879+1G>A (p.Gly592_Pro627delinsAla) and c.1747G>A (p.Glu583Lys). Both splicing variants caused exon skipping and inframe deletions in the TK1 domain. The missense variants resided at the TK1 and TK2 domains respectively impairing PI3K/AKT and MAPK/ERK signaling pathways, the downstream of KIT. All severe cases were associated with variants in the TK domains, eliciting a major dominant-negative mechanism of the disease.
CONCLUSION
Our data expand the mutation spectrum of KIT, emphasized by a dominant-negative effect of variants in the critical TK domains in severe cases. We also share the experience of prenatal diagnosis and informed reproductive choices for the affected families.
PubMed: 38887855
DOI: 10.1002/jcla.25073 -
Animal Genetics Oct 2021Autochthonous cattle breeds constitute important reservoirs of genetic diversity. Reggiana is an Italian local cattle breed reared in the north of Italy for the...
Exploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle.
Autochthonous cattle breeds constitute important reservoirs of genetic diversity. Reggiana is an Italian local cattle breed reared in the north of Italy for the production of a mono-breed Parmigiano-Reggiano cheese. Reggiana cattle usually have a classical solid red coat colour and pale muzzle. As part of the strategies designed for the sustainable conservation of this genetic resource, we investigated at the genome-wise level the within-breed detected variability of three pigmentation-related traits (intensity of red coat colour, based on three classes - light/diluted, normal and dark; spotted patterns/piebaldism that sometime emerge in the breed; muzzle colour - pink/pale, grey and black), stature, presence/absence and number of supernumerary teats and teat length. A total of 1776 Reggiana cattle (about two-thirds of the extant breed population) were genotyped with the GeneSeek GGP Bovine 150k SNP array and single-marker and haplotype-based GWASs were carried out. The results indicated that two main groups of genetic factors affect the intensity of red coat colour: darkening genes (including EDN3 and a few other genes) and diluting genes (including PMEL and a few other genes). Muzzle colour was mainly determined by MC1R gene markers. Piebaldism was mainly associated with KIT gene markers. Stature was associated with BTA6 markers upstream of the NCAPG-LCORL genes. Teat defects were associated with TBX3/TBX5, MCC and LGR5 genes. Overall, the identified genomic regions not only can be directly used in selection plans in the Reggiana breed, but also contribute to clarifying the genetic mechanisms involved in determining exterior traits in cattle.
Topics: Animals; Body Size; Breeding; Cattle; Female; Genotype; Haplotypes; Italy; Mammary Glands, Animal; Pigmentation; Polymorphism, Single Nucleotide
PubMed: 34182594
DOI: 10.1111/age.13109 -
International Journal of Molecular... Feb 2023Adolescence is a critical period of postnatal development characterized by social, emotional, and cognitive changes. These changes are increasingly understood to depend...
Adolescence is a critical period of postnatal development characterized by social, emotional, and cognitive changes. These changes are increasingly understood to depend on white matter development. White matter is highly vulnerable to the effects of injury, including secondary degeneration in regions adjacent to the primary injury site which alters the myelin ultrastructure. However, the impact of such alterations on adolescent white matter maturation is yet to be investigated. To address this, female piebald-virol-glaxo rats underwent partial transection of the optic nerve during early adolescence (postnatal day (PND) 56) with tissue collection two weeks (PND 70) or three months later (PND 140). Axons and myelin in the transmission electron micrographs of tissue adjacent to the injury were classified and measured based on the appearance of the myelin laminae. Injury in adolescence impaired the myelin structure in adulthood, resulting in a lower percentage of axons with compact myelin and a higher percentage of axons with severe myelin decompaction. Myelin thickness did not increase as expected into adulthood after injury and the relationship between the axon diameter and myelin thickness in adulthood was altered. Notably, dysmyelination was not observed 2 weeks postinjury. In conclusion, injury in adolescence altered the developmental trajectory, resulting in impaired myelin maturation when assessed at the ultrastructural level in adulthood.
Topics: Female; Animals; Rats; Myelin Sheath; Axons; Optic Nerve; Optic Nerve Injuries; Demyelinating Diseases
PubMed: 36834755
DOI: 10.3390/ijms24043343 -
Medicina (Kaunas, Lithuania) Jul 2019Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary...
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congenital multisystem disorders caused by an altered development of the neural crest cells, multipotent progenitors of a wide variety of different lineages, including those differentiating into peripheral nervous system glial cells and melanocytes. We report on clinical and genetic findings of two monozygotic twins from a large Albanian family who showed a complex phenotype featured by sensorineural congenital deafness, severe neuropsychiatric impairment, and inborn pigmentary defects of hair and skin. The genetic analyzes identified, in both probands, an unreported co-occurrence of a new heterozygous germline pathogenic variant (c.2484 + 5G > T splicing mutation) in the gene, consistent with the diagnosis of piebaldism, and a heterozygous deletion at chromosome 15q13.3, responsible for the neuropsychiatric impairment. This case represents the first worldwide report of dual locus inherited syndrome in piebald patients affected by a complex auditory-pigmentary multisystem phenotype. Here we also synthesize the clinical and genetic findings of all known neurocristopathies characterized by a hypopigmentary congenital disorder.
Topics: Female; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Piebaldism; Polymerase Chain Reaction; Twins; Young Adult
PubMed: 31284637
DOI: 10.3390/medicina55070345