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Journal of Medical Case Reports Jan 2021Chemotherapy medications are reported to cause discoloration of the nails known as melanonychia. Depending on the nail structure affected and the severity of the insult,...
BACKGROUND
Chemotherapy medications are reported to cause discoloration of the nails known as melanonychia. Depending on the nail structure affected and the severity of the insult, the clinical features can be variable. There are a great deal of unreported cases of pigmentary nail changes associated with chemotherapy treatment. By sharing our knowledge, we hope to raise the awareness of these nail changes amongst clinicians. Early recognition is crucial to allay anxiety among patients and avoid any unnecessary investigations.
CASE PRESENTATION
We present a case of 36-year-old woman of south Asian origin, who developed dark pigmentation in the left thumb nail during neoadjuvant chemotherapy with 5-fluorouracil, epirubicin, cyclophosphamide, and docetaxel (FEC-D) for triple negative breast cancer. Upon examination, the left thumb nail pigmentation was strikingly linear, uniform, and well demarcated extending from proximal nail fold to free margin. Despite the reassuring clinical features, the patient was understandably anxious that this could be a presentation of acral melanoma and was referred to the plastic surgeons for a nail matrix biopsy. Biopsy reassuringly was reported as melanosis and a diagnosis of striate melanonychia was made. The patient was discharged after 2-year follow-up.
CONCLUSION
Chemotherapy medications have improved survival rates and patient outcomes. It is important for clinicians to be aware of the association of melanonychia with certain chemotherapy medications to reduce anxiety and allow successful management of these patients without delay. Striate melanonychia in this patient was felt most likely due to the synergistic effect of chemotherapy drugs compounded with racial predisposition. Chemotherapy agents most likely to have contributed include cyclophosphamide, docetaxel, and 5-fluorouracil.
Topics: Adult; Female; Humans; Melanoma; Nail Diseases; Nails; Pigmentation Disorders; Skin Neoplasms
PubMed: 33516241
DOI: 10.1186/s13256-020-02612-5 -
Indian Journal of Dermatology,... 2014
Topics: Adult; Carotenoids; Hand Dermatoses; Humans; Male; Mouth Mucosa; Palate; Pigmentation Disorders; Skin Diseases
PubMed: 24685853
DOI: 10.4103/0378-6323.129396 -
Anais Brasileiros de Dermatologia 2013A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the... (Review)
Review
A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutaneous mosaicisms usually manifest by specific patterns on the skin and the archetypic pattern is the system of Blaschko lines, but others include checkerboard, phylloid, large patches without midline separation and lateralization. Since 1901, when Blaschko lines were first described, the study of mosasicism has helped to elucidate the behavior of numerous genetic diseases, generating therapeutic perspectives for these pathologies, including the promising gene therapy.
Topics: Humans; Mosaicism; Pigmentation Disorders; Skin; Skin Diseases; Syndrome
PubMed: 24068120
DOI: 10.1590/abd1806-4841.20132015 -
Der Ophthalmologe : Zeitschrift Der... Nov 2021
Topics: Conjunctival Diseases; Conjunctival Neoplasms; Humans; Pigmentation; Pigmentation Disorders
PubMed: 33630148
DOI: 10.1007/s00347-021-01337-0 -
The Journal of Investigative Dermatology Feb 1993In this article we describe the rapid advances made in the molecular genetics of three inherited pigmentation disorders: albinism, piebaldism, and vitiligo, all of which... (Review)
Review
In this article we describe the rapid advances made in the molecular genetics of three inherited pigmentation disorders: albinism, piebaldism, and vitiligo, all of which throw light on normal pigment cell function. The focus is on studies in mice, with comparison of data in humans. The critical role of tyrosinase (c-locus or human tyrosinase protein) in normal pigmentation and albinism has been reinforced by the cloning and identification of mutations in tyrosinase and two other melanocyte-specific oxidoreductases structurally related to but functionally different from tyrosinase: the (b) brown-locus protein/gp75/catalase B and dopachrome tautomerase. Each possesses a distinct enzyme activity and yet the three share homology in strategic regions. Most of the point mutations that reduce or abrogate the respective enzyme activities are located in those regions. Tyrosinase-negative albinism is caused only by defects in tyrosinase. A locus for human tyrosinase-positive albinism has been recently mapped to chromosome 15q11.2-->q12, at a gene identified in mice as pink-eyed dilution. On the other hand, several genes encoding proteins critical for the proliferation of melanocytes are known to control the piebald phenotype. So far identified are two membrane-receptor tyrosine kinases, c-Kit and PDGF-R/alpha, and the ligand for c-kit, MGF (mast-cell growth factor, also known as stem-cell factor, c-Kit-ligand, or steel factor). Mutations in W/c-kit (white spotting), Ph/Pdgfr/a (patch), and Sl/MGF (steel), lead to a reduction in receptor kinase activity and failure of melanocytes to thrive and reach the skin during embryogenesis. Finally, mouse mutant models suggest at least two possible causes for vitiligo, a progressive loss of pigmentation that occurs after birth. In one mutant, the Blt (light) mouse, the cyclic death of hair melanocytes may be due to the toxicity of intermediates and byproducts of melanogenesis in the presence of a dysfunctional b-locus protein. In the other model, the "vitiligo mouse," in which the allele vit has been assigned to the microphthalmia (mi) locus, the loss of melanocytes may be caused by defective signal transduction, because in addition to vitiligo mivit/mivit mice have extensive piebaldism.
Topics: Albinism; Amino Acid Sequence; Animals; Base Sequence; Humans; Mice; Mice, Inbred BALB C; Mice, Mutant Strains; Molecular Sequence Data; Piebaldism; Pigmentation Disorders; Vitiligo
PubMed: 8433006
DOI: No ID Found -
Italian Journal of Dermatology and... Feb 2021Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting...
BACKGROUND
Nevus depigmentosus (ND) is an uncommon congenital nonprogressive hypopigmented skin disorder that can be seen anywhere on the body. We considered other depigmenting disorders and focused on distinguishing ND from vitiligo and tuberous sclerosis complex in infancy.
METHODS
The diagnosis of patients with nevus depigmentosus was made differentiating it from nevus anemicus, pityriasis alba, tuberous sclerosis complex, vitiligo and other depigmenting disorders.
RESULTS
Of the 37 individuals with nevus depigmentosus evaluated, 36 were children, twenty-two (59.4%) were males and 15 (40.5%) were females, with male to female ratio 1.4:1.
CONCLUSIONS
Distinguishing ND from other disorders with depigmentation can be challenging, in particular in case of tuberous sclerosis complex and vitiligo in infancy.
Topics: Child; Female; Humans; Hypopigmentation; Male; Nevus; Pigmentation Disorders; Skin Neoplasms; Vitiligo
PubMed: 33228333
DOI: 10.23736/S2784-8671.20.06681-X -
Neuron Apr 2001
Review
Topics: Animals; Cochlea; DNA-Binding Proteins; Hearing Loss, Sensorineural; Humans; Melanocytes; Microphthalmia-Associated Transcription Factor; Pigmentation Disorders; Skin Pigmentation; Transcription Factors; Transcription, Genetic
PubMed: 11343641
DOI: 10.1016/s0896-6273(01)00259-8 -
Indian Journal of Dermatology,... 2010Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with...
Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and sclerodermatous changes. The present case is reported due to its rarity.
Topics: Alopecia; Child, Preschool; Humans; Male; Pigmentation Disorders; Progeria; Scleroderma, Localized
PubMed: 20827016
DOI: 10.4103/0378-6323.69094 -
BMJ Case Reports Jan 2021
Topics: Female; Humans; Middle Aged; Pigmentation Disorders; Pruritus; Purpura
PubMed: 33462064
DOI: 10.1136/bcr-2020-240052 -
International Journal of Molecular... Aug 2020Melanogenesis is the biological and biochemical process of melanin and melanosome biosynthesis. Melanin is formed by enzymic reactions of tyrosinase family proteins that... (Review)
Review
Melanogenesis is the biological and biochemical process of melanin and melanosome biosynthesis. Melanin is formed by enzymic reactions of tyrosinase family proteins that convert tyrosine to form brown-black eumelanin and yellow-red pheomelanin within melanosomal compartments in melanocytes, following the cascades of events interacting with a series of autocrine and paracrine signals. Fully melanized melanosomes are delivered to keratinocytes of the skin and hair. The symbiotic relation of a melanocyte and an associated pool of keratinocytes is called epidermal melanin unit (EMU). Microphthalmia-associated transcription factor (MITF) plays a vital role in melanocyte development and differentiation. MITF regulates expression of numerous pigmentation genes for promoting melanocyte differentiation, as well as fundamental genes for maintaining cell homeostasis. Diseases involving alterations of EMU show various forms of pigmentation phenotypes. This review introduces four major topics of melanogenesis cascade that include (1) melanocyte development and differentiation, (2) melanogenesis and intracellular trafficking for melanosome biosynthesis, (3) melanin pigmentation and pigment-type switching, and (4) development of a novel therapeutic approach for malignant melanoma by elucidation of melanogenesis cascade.
Topics: Cell Differentiation; Humans; Melanins; Melanocytes; Melanoma; Microphthalmia-Associated Transcription Factor; Pigmentation Disorders
PubMed: 32854423
DOI: 10.3390/ijms21176129