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1. Full Text The genetic basis of DOORS syndrome: an exome-sequencing study
by Campeau, Philippe M, MD and Kasperaviciute, Dalia, PhD and Lu, James T, PhD and Burrage, Lindsay C, PhD and Kim, Choel, PhD and Hori, Mutsuki, MD and Powell, Berkley R, MD and Stewart, Fiona, MBBS and Félix, Têmis Maria, PhD and van den Ende, Jenneke, MD and Wisniewska, Marzena, PhD and Kayserili, Hülya, MD and Rump, Patrick, PhD and Nampoothiri, Sheela, MSc and Aftimos, Salim, MD and Mey, Antje, MD and Nair, Lal D V, MD and Begleiter, Michael L, MSc and De Bie, Isabelle, PhD and Meenakshi, Girish, MBBS and Murray, Mitzi L, MD and Repetto, Gabriela M, MD and Golabi, Mahin, MD and Blair, Edward, MD and Male, Alison, MD and Giuliano, Fabienne, MD and Kariminejad, Ariana, MD and Newman, William G and Bhaskar, Sanjeev S and Dickerson, Jonathan E and Kerr, Bronwyn and Banka, Siddharth and Giltay, Jacques C, PhD and Wieczorek, Dagmar, MD and Tostevin, Anna, MSc and Wiszniewska, Joanna, MD and Cheung, Sau Wai, Prof and Hennekam, Raoul C, Prof and Gibbs, Richard A, Prof and Lee, Brendan H, Prof and Sisodiya, Sanjay M, Prof
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 1, pp. 44 - 58
Summary Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of... 
Neurology | DOMAIN | MENTAL-RETARDATION | DISORDERS | DEAFNESS | INFANTILE SEIZURES | MUTATIONS | SPECTRUM | PROTEINS | FOCAL EPILEPSY | CLINICAL NEUROLOGY | Humans | Child, Preschool | Infant | Male | Hearing Loss, Sensorineural - genetics | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Nails, Malformed - genetics | Young Adult | Carrier Proteins - genetics | Exome - genetics | Hearing Loss, Sensorineural - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Internationality | Intellectual Disability - diagnosis | Adolescent | Carrier Proteins - chemistry | Female | Child | Sequence Analysis, DNA - methods | Craniofacial Abnormalities - genetics | Nails, Malformed - diagnosis | Deafness | Medical research | Medical colleges | Epilepsy | Genomics | Medical genetics | Medicine, Experimental | Genetic research | Genetic aspects | Genomes | Seizures (Medicine) | Mental illness | Calvaria
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2. Full Text Onychotillomania: An underrecognized disorder
by Rieder, Evan A., MD and Tosti, Antonella, MD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2016, Volume 75, Issue 6, pp. 1245 - 1250
Onychotillomania is an uncommon and likely underreported condition in which patients repetitively manipulate the different constituents of the nail unit.... 
Dermatology | nail diseases | habit tic deformity | nail-picking disorder | onychotillomania | nails | onychotillophagia | HABIT-TIC DEFORMITY | SKIN PICKING DISORDER | N-ACETYL CYSTEINE | FOCUSED REPETITIVE BEHAVIORS | ONYCHOPHAGIA | DERMATOLOGY | Nail Diseases - diagnosis | Nails, Malformed - therapy | Mental Disorders - therapy | Nail Biting - therapy | Self-Injurious Behavior - psychology | Humans | Nail Diseases - therapy | Self-Injurious Behavior - diagnosis | Mental Disorders - psychology | Nail Diseases - etiology | Nails, Malformed - etiology | Mental Disorders - diagnosis | Nail Biting - psychology | Nails, Malformed - diagnosis | Self-Injurious Behavior - therapy | Medical colleges | Behavioral health care | Behavior therapy | Skin
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3. Full Text Congenital Malalignment of the Great Toenails With Acute Paronychia
by Lipner, Shari R and Scher, Richard K
Pediatric Dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e288 - e289
Congenital malalignment of the great toenails ( CMGT ) has been well documented. In the present case, it was complicated by acute paronychia. It is important... 
TOE NAIL | PEDIATRICS | DERMATOLOGY | Nails, Malformed - therapy | Paronychia - etiology | Humans | Paronychia - diagnosis | Female | Nails, Malformed - congenital | Child | Paronychia - therapy | Nails, Malformed - diagnosis | Genetic disorders
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4. Full Text Onychodystrophy in Sézary syndrome
by Damasco, Fabiana M and Geskin, Larisa and Akilov, Oleg E
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 972 - 973
PSORIASIS | DERMATOLOGY | Severity of Illness Index | Nail Diseases - diagnosis | Nail Diseases - epidemiology | Prognosis | Risk Assessment | Comorbidity | Humans | Middle Aged | Male | Sezary Syndrome - epidemiology | Survival Rate | Skin Neoplasms - epidemiology | Incidence | Disease-Free Survival | Sezary Syndrome - diagnosis | Nails, Malformed - epidemiology | Skin Neoplasms - diagnosis | Female | Aged | Retrospective Studies | Cohort Studies | Nails, Malformed - diagnosis
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5. Iso Kikuchi syndrome: Congenital onychodysplasia of the index fingers, or COIF syndrome
by L'Orphelin, JM and Picard, C and Andre, J and Richert, B and Dompmartin, A
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, ISSN 0151-9638, 04/2018, Volume 145, Issue 4, pp. 304 - 306
NEWBORN | DERMATOLOGY | Nail Diseases - diagnostic imaging | Diagnosis, Differential | Nail Diseases - diagnosis | Humans | Infant | Nail Diseases - congenital | Nail Diseases - pathology | Nails, Malformed - pathology | Syndrome | Nails, Malformed - diagnostic imaging | Female | Nails, Malformed - congenital | Nails, Malformed - diagnosis
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6. Full Text Pincer nails following arteriovenous fistula creation
by Clark, Edward G and Burns, Kevin D
Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 918 - 918
UROLOGY & NEPHROLOGY | Reoperation | Kidney Failure, Chronic - diagnosis | Humans | Nails, Malformed - physiopathology | Kidney Failure, Chronic - therapy | Ligation | Arteriovenous Shunt, Surgical - adverse effects | Female | Aged | Hemodynamics | Nails, Malformed - etiology | Nails, Malformed - diagnosis | Renal Dialysis
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7. Full Text Abnormal nails and chronic cough
by Vignes, S and Simon, L and Vidal, F and Arrault, M
REVUE DE MEDECINE INTERNE, ISSN 0248-8663, 09/2018, Volume 39, Issue 9, pp. 767 - 768
MEDICINE, GENERAL & INTERNAL | Yellow nail syndrome | Cough - etiology | Nail Diseases - diagnosis | Nail Diseases - etiology | Humans | Middle Aged | Cough - diagnosis | Female | Yellow Nail Syndrome - diagnosis | Nails, Malformed - etiology | Chronic Disease | Nails, Malformed - pathology | Nails, Malformed - diagnosis
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8. Full Text Case 2: Red toes in a 17-day-old boy
by Sears, William and Perez, Cristina and Shriner, Andrew
Pediatrics in Review, ISSN 0191-9601, 06/2018, Volume 39, Issue 6, pp. 311 - 311
Erythema - etiology | Hallux - abnormalities | Foot Dermatoses - etiology | Humans | Male | Nails, Malformed - complications | Infant, Newborn | Nails, Malformed - diagnosis
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9. Full Text Visual Diagnosis: Spoon Nails and Short, Brittle Hair in a 3-year-old Boy
by Sorensen, Eric P and Tom, Wynnis L
Pediatrics in review, ISSN 0191-9601, 09/2016, Volume 37, Issue 9, pp. e38 - e40
Nails, Malformed - therapy | Monilethrix - therapy | Monilethrix - complications | Humans | Monilethrix - diagnosis | Child, Preschool | Male | Nails, Malformed - complications | Nails, Malformed - diagnosis
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10. Full Text Congenital Malalignment of the Great Toenail
by Ko, Dayoung and Lipner, Shari
Journal of Cutaneous Medicine and Surgery, ISSN 1203-4754, 5/2018, Volume 22, Issue 3, pp. 326 - 326
DERMATOLOGY | Hallux - pathology | Nail Diseases - diagnosis | Humans | Male | Nail Diseases - congenital | Child | Nail Diseases - pathology | Nails - pathology | Nails, Malformed - pathology | Nails, Malformed - diagnosis
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11. Full Text Subungual Pigmented Tumor with Onychodystrophy: Challenge
by Mochel, Mark C and Miller, Christopher J and Rubin, Adam I
American Journal of Dermatopathology, ISSN 0193-1091, 09/2017, Volume 39, Issue 9, pp. 707 - 708
DERMATOLOGY | Immunohistochemistry | Skin Neoplasms - pathology | Nail Diseases - diagnosis | Nevus, Spindle Cell - surgery | Prognosis | Risk Assessment | Humans | Thumb | Treatment Outcome | Nail Diseases - pathology | Nails, Malformed - pathology | Nevus, Spindle Cell - pathology | Nails, Malformed - surgery | Nevus, Spindle Cell - diagnosis | Skin Neoplasms - diagnosis | Adult | Nail Diseases - surgery | Biopsy, Needle | Skin Neoplasms - surgery | Nails, Malformed - diagnosis
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12. Full Text Open toe sandals syndrome
by Borman, Andrew M and Johnson, Elizabeth M
BMJ, ISSN 0959-8146, 12/2016, Volume 355, p. i6496
Is fear of summer foot exposure contributing to the workload of mycology labs, ask Andrew Borman and Elizabeth Johnson 
Diagnosis, Differential | Nail Diseases - diagnosis | Tinea Pedis - microbiology | Humans | Tinea - microbiology | Tinea Pedis - etiology | Male | Nail Diseases - congenital | Nails - pathology | Nails - microbiology | Tinea - etiology | Tinea Pedis - diagnosis | Nail Diseases - etiology | Shoes - adverse effects | Female | Mycological Typing Techniques - methods | Nails, Malformed - etiology | Seasons | Toes - abnormalities | United Kingdom - epidemiology | Tinea - diagnosis | Nails, Malformed - diagnosis
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13. Full Text Retronychia in children, adolescents, and young adults: A case series
by Piraccini, Bianca Maria, MD, PhD and Richert, Bertrand, MD, PhD and de Berker, David A., MD and Tengattini, Vera, MD and Sgubbi, Paola, MD and Patrizi, Annalisa, MD, Prof and Stinchi, Caterina, MD and Savoia, Francesco, MD, PhD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2013, Volume 70, Issue 2, pp. 388 - 390
Dermatology | DERMATOLOGY | Nails, Ingrown - therapy | Recurrence | Nails - drug effects | Age Factors | Follow-Up Studies | Paronychia - etiology | Humans | Male | Nail Diseases - congenital | Nails, Ingrown - complications | Young Adult | Nails, Ingrown - diagnosis | Female | Retrospective Studies | Child | Nails, Malformed - complications | Ointments | Severity of Illness Index | Nail Diseases - complications | Nail Diseases - diagnosis | Nails, Malformed - therapy | Risk Assessment | Nail Diseases - therapy | Treatment Outcome | Nails - surgery | Adolescent | Clobetasol - administration & dosage | Toes - abnormalities | Administration, Topical | Paronychia - therapy | Cohort Studies | Nails, Malformed - diagnosis
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14. Full Text Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases
by Ramassamy, Sivaranjini and Gibikote, Sridhar and George, Renu
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 11/2016, Volume 82, Issue 6, pp. 693 - 695
HYPOPLASIA | DISTAL PHALANGES | COOKS-SYNDROME | DERMATOLOGY | Humans | Brachydactyly - diagnosis | Female | Infant | Nails, Malformed - congenital | Child | Nails, Malformed - complications | Brachydactyly - complications | Finger Phalanges - abnormalities | Nails, Malformed - diagnosis
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15. Full Text "Dots and lines": A melanonychia striata in regression: Report of a case
by Burkink, E and Hamid, MA and Martens, H
PEDIATRIC DERMATOLOGY, ISSN 0736-8046, 11/2017, Volume 34, Issue 6, pp. E321 - E323
A 2-year-old Caucasian boy with melanonychia striata with multiple striking pits on the nail plate of one fingernail is described. Nail disorders often pose... 
DERMOSCOPY | PEDIATRICS | subungual melanoma | melanonychia | DERMATOLOGY | Diagnosis, Differential | Nail Diseases - diagnosis | Humans | Child, Preschool | Dermoscopy | Male | Remission, Spontaneous | Nails, Malformed - etiology | Nails - pathology | Pigmentation | Nails, Malformed - diagnosis | Case reports | Fingernail | Children | Fingers & toes | Melanoma
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16. Full Text Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome
by Busa, Tiffany and Jeraiby, Mohammed and Clémenson, Alix and Manouvrier, Sylvie and Granados, Viviana and Philip, Nicole and Touraine, Renaud
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A... 
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | KERATINOCYTE DIFFERENTIATION | DEFECTS | ANKYLOBLEPHARON | DISORDERS | POPLITEAL PTERYGIUM SYNDROME | P63 | GENETICS & HEREDITY | SPECTRUM | ECTODERMAL DYSPLASIAS | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases
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17. Full Text Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias
by Whittington, Adam and Stein, Sarah and Kenner‐Bell, Brandi
Pediatric Dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e322 - e326
Acro‐dermato‐ungual‐lacrimal‐tooth ( ADULT ) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP 63 gene, a locus... 
PEDIATRICS | DERMATOLOGY | Anodontia - diagnosis | Limb Deformities, Congenital - genetics | Prognosis | Humans | Lacrimal Duct Obstruction - diagnosis | Lacrimal Duct Obstruction - genetics | Mothers | Anodontia - genetics | Tumor Suppressor Proteins - genetics | Abnormalities, Multiple - epidemiology | Adult | Female | Child | Siblings | Severity of Illness Index | Pigmentation Disorders - epidemiology | Diagnosis, Differential | Genetic Predisposition to Disease | Risk Assessment | Pigmentation Disorders - diagnosis | Ectodermal Dysplasia - diagnosis | Ectodermal Dysplasia - epidemiology | Transcription Factors - genetics | Pigmentation Disorders - genetics | Lacrimal Duct Obstruction - epidemiology | Nails, Malformed - genetics | Anodontia - epidemiology | Limb Deformities, Congenital - diagnosis | Breast - abnormalities | Limb Deformities, Congenital - epidemiology | Nails, Malformed - epidemiology | Pedigree | Abnormalities, Multiple - diagnosis | Adolescent | Ectodermal Dysplasia - genetics | Mutation | Nails, Malformed - diagnosis | Dysplasia
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18. Full Text Onychoheterotopia Due to a Traumatically Transplanted Nail in a Child
by Greywal, Tanya and Maroñas‐Jiménez, Lidia and Friedlander, Sheila Fallon
Pediatric Dermatology, ISSN 0736-8046, 11/2015, Volume 32, Issue 6, pp. e305 - e306
Onychoheterotopia is a rare condition characterized by ectopic nail tissue growth. It is a digital mass that is commonly misdiagnosed. We describe a 6‐year‐old... 
POSTTRAUMATIC ECTOPIC NAIL | PEDIATRICS | DERMATOLOGY | Diagnosis, Differential | Nail Diseases - diagnosis | Follow-Up Studies | Humans | Treatment Outcome | Finger Injuries - complications | Rare Diseases | Choristoma - diagnosis | Warts - etiology | Choristoma - etiology | Nails, Malformed - surgery | Nail Diseases - etiology | Female | Nail Diseases - surgery | Warts - diagnosis | Finger Injuries - diagnosis | Nails, Malformed - etiology | Child | Choristoma - surgery | Nails, Malformed - diagnosis
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19. Full Text Onychoheterotopia: Pathogenesis, presentation, and management of ectopic nail
by Riaz, Fauzia, BS and Rashid, Rashid M., MD, PhD and Khachemoune, Amor, MD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2009, Volume 64, Issue 1, pp. 161 - 166
Background Onychoheterotopia is an extremely rare condition in which the nail tissue grows outside the classic nail unit of the dorsal fingers and toes. It... 
Dermatology | nail surgery | onychoheterotopia | onychodystrophy | congenital palmar nail syndrome | nail | ectopic nail | DEFORMITY | DERMATOLOGY | Immunohistochemistry | Nail Diseases - diagnosis | Nails, Malformed - therapy | Skin Diseases - therapy | Prognosis | Nails | Humans | Male | Nail Diseases - therapy | Treatment Outcome | Rare Diseases | Skin Diseases - pathology | Choristoma - diagnosis | Nail Diseases - pathology | Nails, Malformed - pathology | Skin Diseases - diagnosis | Choristoma - therapy | Female | Biopsy, Needle | Choristoma - pathology | Nails, Malformed - diagnosis
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20. Full Text Spectrum of PEX1 and PEX6 variants in Heimler syndrome
by Smith, Claire E.L and Poulter, James A and Levin, Alex V and Capasso, Jenina E and Price, Susan and Ben-Yosef, Tamar and Sharony, Reuven and Newman, William G and Shore, Roger C and Brookes, Steven J and Mighell, Alan J and Inglehearn, Chris F
European Journal of Human Genetics, ISSN 1018-4813, 11/2016, Volume 24, Issue 11, pp. 1565 - 1571
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual... 
ZELLWEGER-SYNDROME SPECTRUM | NAIL ABNORMALITIES | ENAMEL HYPOPLASIA | SENSORINEURAL HEARING-LOSS | GENOTYPE-PHENOTYPE CORRELATIONS | USHER-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PEROXISOME BIOGENESIS DISORDERS | MUTATIONS | DNA-SEQUENCING DATA | IDENTIFICATION | ATPases Associated with Diverse Cellular Activities | Retina - metabolism | Frameshift Mutation | Membrane Proteins - genetics | Mice, Inbred C57BL | Adenosine Triphosphatases - metabolism | Hearing Loss, Sensorineural - genetics | Amelogenesis Imperfecta - genetics | Mutation, Missense | Nails, Malformed - genetics | Exome | Hearing Loss, Sensorineural - diagnosis | Phenotype | Animals | Amelogenesis Imperfecta - diagnosis | Pedigree | Heterozygote | Adenosine Triphosphatases - genetics | Membrane Proteins - metabolism | Mice | Nails, Malformed - diagnosis | Enamel | Licenses | Retina | Biosynthesis | Genomes | Dentistry | Hearing impairment | Patients | Defects | Hearing loss | Medicine | Proteins | Genotype & phenotype | Hospitals | Genetics | Mutation | Immunoreactivity | Amelogenesis imperfecta | Genotypes
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