"Anonychia"

A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia. The Wnt signalling pathway is a major pathway involved in the embryogenic development of the various organs of the body. Appropriate signalling in this pathway relies on the proper functioning of several proteins including the R-spondin family of proteins. Deactivating mutations in R-spondin 4 are associated with anonychia. We present the case of a 26-year-old man presenting with anonychia of the 20 nails, which had been present since birth. Using genetic studies, we identified a novel nonsense mutation, c.164-165TC>AA, characterized by two consecutive mismatch bases. To our knowledge, this mutation is the first to be reported in R-spondin 4 in a Lebanese population. Evaluating new patients with anonychia provides

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure. KEY TEACHING POINTS.

[136] Unknown Multiple BCC (infundibulocystic type)Schopf-Schultz-Passarge syndrome AR > AD Unknown Ectodermal dysplasia (hypotrichosis, hypodontia, and nail dystrophy [anonychia and trachyonychia]), hidrocystomas of eyelids, palmoplantar keratosis and hyperhidrosis, and BCC [137]Xeroderma pigmentosum AR XPA, XPB/ERCC3, XPC, XPD/ERCC2, XPE/DDB2, XPF/ERCC4, XPG/ERCC5 SCC, BCC, melanoma, severe sun

found in this study were transverse lines, onycholysis, longitudinal melanonychia, leukonychia, subungual hemorrhage, subungual hyperkeratosis, anonychia, and onychorrexis. Nail changes are found in leprosy patients and have a wide variety of clinical appearances. A dermoscopy should be performed to assess nail changes in leprosy.

Diagnostic Challenges in a Family with Dominant Dystrophic Epidermolysis Bullosa and Isolated Hereditary Nail Disorder: Paternal Gonosomal Mosaicism for COL7A1 Mutation and Maternal RSPO4 Variant. Dystrophic epidermolysis bullosa (DEB) has long been recognized as a well-known genodermatosis, caused by COL7A1 gene pathogenic variants. Isolated anonychia associated with RSPO4 gene mutation is a recently described non-syndromic autosomal recessive condition. In this family, a 13-year-old girl presented with severe epidermolysis bullosa symptoms. Family history revealed milder but similar complaints in the siblings, and anonychia affecting all nails in the mother and maternal relatives. The father did not have any signs of DEB. Genetic testing revealed heterozygous c.6127G>A (p.Gly2043Arg

compromised nails of patients with NLP over 18 years old, who consulted between 2009 and 2019 at the Instituto de Dermatologia Professor Rubem David Azulay in Rio de Janeiro, Brazil. Descriptive and statistical analysis using Fisher's exact test was performed to verify the hypothesis of independence between characteristics (P < 0.05). A total of 102 patients were included. Anonychia was associated

of the axillary and pubic areas is known as Graham Little-Pidcardi-Lassueur syndrome. 2. LP lesions of the nails (onychoshcysia or/and onychorrhexis or even anonychia). Thinning, longitudinal ridging and distal splitting are the most common findings. Pterygium formation, onycholysis and subungual hyperkeratosis may be less frequently observed. Mucosal LP The mucosal lesion of LP can be accompanied by skin

(mental retardation) who presented with seizures in the emergency department. General examination revealed dysmorphic features like anonychia, low set ears, long philtrum, large lower lips and abnormal dermatoglyphics with features of osteodystrophy on radiology. She was diagnosed as a case of DOORS syndrome, an extremely rare genetic condition affecting the TCA cycle, with just over 40 cases reported

pigmentation, oral leukoplakia, and nail dysplasia leading to anonychia. Whole exome sequencing identified novel biallelic variants in PARN. This patient illustrates that the constellation of intrauterine growth retardation, central nervous system calcifications, and cerebellar hypoplasia, esophageal or urethral stenosis, and cytopenias, in the absence of congenital infection, may be due to Hoyeraal

involvement is observed in around 10% of patient and typically affects the fingernails more than toenails. Nail lichen planus can cause extensive scarring and nail loss. Permanent dystrophy in the forms of anonychia and dorsal pterygium has both functional and psychological consequences. Diagnosis is typically clinical, but a punch biopsy of the nail matrix or nail bed may be utilized if a diagnosis

Abnormalities, Anonychia, Onychodystrophy, Onychogryposis, Onychoschizia, Onychotillomania, Dystrophic Nail, Nail Dystrophy, Dystrophia Unguium Dermatology Nail Disorders Chapter * Approach * Nail Abnormality * Color Finding * Nail Discoloration * Green Nails * Half-and-half Nail * Terry's Nail * Yellow Nail Syndrome * Cardiovascular Medicine * Nail Splinter Hemorrhage * Nail ... * Definitions * Findings: Nail Changes * Findings: Growths under or around the nail * References * Extra: Related Bing Images * Extra: Related Studies * Extra: UMLS Ontology * Extra: Navigation Tree advertisement II. Definitions 1. Anonychia 1. Absent nails 2. Chromonychia (see Nail Discoloration) 1. Color changes of nails 3. Koilonychia 1. Spoon-shaped nails

of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. View Media Gallery Affected individuals and their family members can be reassured that there is usually little functional impairment and that for most affected individuals, the disorder is mainly of cosmetic concern. Sometimes, bone or nail abnormalities need ). Examination of the right index finger reveals micronychia. The changes of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. of 4 TablesBack to List Contributor Information and Disclosures Author Stefanos F Haddad, MDFellow in Hand and Upper Extremity Surgery, Rothman InstituteStefanos F Haddad, MD is a member

presentation of congenital onychodysplasia of the index finger (COIF). Examination of the right index finger reveals micronychia. The changes of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. of 4 TablesBack to List Contributor Information and Disclosures Author Stefanos F Haddad, MDFellow in Hand and Upper Extremity

of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. View Media Gallery Affected individuals and their family members can be reassured that there is usually little functional impairment and that for most affected individuals, the disorder is mainly of cosmetic concern. Sometimes, bone or nail abnormalities need ). Examination of the right index finger reveals micronychia. The changes of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. of 4 TablesBack to List Contributor Information and Disclosures Author Stefanos F Haddad, MDFellow in Hand and Upper Extremity Surgery, Rothman InstituteStefanos F Haddad, MD is a member

presentation of congenital onychodysplasia of the index finger (COIF). Examination of the right index finger reveals micronychia. The changes of the left index finger approach anonychia except for the presence of a small amount of dystrophic nail. Courtesy of Dr. Ilene Rothman. of 4 TablesBack to List Contributor Information and Disclosures Author Stefanos F Haddad, MDFellow in Hand and Upper Extremity

necrolysis and can affect 23-100% of these patients. [8] Cutaneous complications can include the following: * * Postinflammatory dyspigmentation (hyperpigmentation or hypopigmentation) * * Abnormal scarring * * Eruptive nevi * * Nail changes (onychomadesis, anonychia, pterygium formation, ridging, dystrophy, abnormal pigmentation) * * Telogen effluvium * * Alopecia areata * * Chronic

necrolysis and can affect 23-100% of these patients. [8] Cutaneous complications can include the following: * * Postinflammatory dyspigmentation (hyperpigmentation or hypopigmentation) * * Abnormal scarring * * Eruptive nevi * * Nail changes (onychomadesis, anonychia, pterygium formation, ridging, dystrophy, abnormal pigmentation) * * Telogen effluvium * * Alopecia areata * * Chronic

necrolysis and can affect 23-100% of these patients. [8] Cutaneous complications can include the following: * * Postinflammatory dyspigmentation (hyperpigmentation or hypopigmentation) * * Abnormal scarring * * Eruptive nevi * * Nail changes (onychomadesis, anonychia, pterygium formation, ridging, dystrophy, abnormal pigmentation) * * Telogen effluvium * * Alopecia areata * * Chronic

necrolysis and can affect 23-100% of these patients. [8] Cutaneous complications can include the following: * * Postinflammatory dyspigmentation (hyperpigmentation or hypopigmentation) * * Abnormal scarring * * Eruptive nevi * * Nail changes (onychomadesis, anonychia, pterygium formation, ridging, dystrophy, abnormal pigmentation) * * Telogen effluvium * * Alopecia areata * * Chronic

Abnormalities, Anonychia, Onychodystrophy, Onychogryposis, Onychoschizia, Onychotillomania, Dystrophic Nail, Nail Dystrophy, Dystrophia Unguium Dermatology Nail Disorders Chapter * Approach * Nail Abnormality * Color Finding * Nail Discoloration * Green Nails * Half-and-half Nail * Terry's Nail * Yellow Nail Syndrome * Cardiovascular Medicine * Nail Splinter Hemorrhage * Nail ... * Definitions * Findings: Nail Changes * Findings: Growths under or around the nail * References * Extra: Related Bing Images * Extra: Related Studies * Extra: UMLS Ontology * Extra: Navigation Tree advertisement II. Definitions 1. Anonychia 1. Absent nails 2. Chromonychia (see Nail Discoloration) 1. Color changes of nails 3. Koilonychia 1. Spoon-shaped nails