The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this synd...

We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mo...

SUMMARY Over three successive generations four members of a Sicilian family showed early onset, slowly progressive dystrophy of the finger and toe nails, without any other anomalies or skin signs. Histological examination performed in two patients enabled us to discount lichen planus and other underlying diseases. The hereditary and idiopathic nature of the disease is underlined and a classific...

A 53-year-old male patient was referred for evaluation of recurrent erosions of inguinal and anogenital areas, both lower legs and the oral mucosa. In addition, almost all nails and several teeth were lacking, and the residual teeth showed enamel defects. History revealed congenital absence of skin of large parts of the lower legs and widespread blistering in early childhood. Antigen mapping sh...

Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition characterized by cutaneous manifestation mainly hyperkeratosis skin and mucosae hypertrophy nails. In this condition, almost 50% the patients will have oral leukokeratosis. The case report here 15 years old girl, presented with dystrophic, thickened fingernails toenails subun...

Aging is one of the predisposing conditions to develop mycotic nails [1-3], those often present chronic health problems such as diabetes peripheral circulation In fact in the elderly [3,4], the normal structure of the nail is altered producing changes in the color, thickness, flexibility, and shape resulting in some cases to marked dystrophic disturbances, mainly on the toenails. Since most of ...

To the Editor, Trachyonychia, also known as 20-nail dystrophy or rough nails, is characterized by surface roughness and opacity of the nail due to extensive longitudinal ridging [1–3] . The condition may be idiopathic or associated with eczema, lichen planus, psoriasis, or alopecia areata [1–3] . Although spontaneous resolution can be expected in trachyonychia, aggressive treatments are necessa...

The Yellow Nail Syndrome is a rare clinical entity, first described in 1967 by P.D. Samman and W.F. White. The triad slow-growing dystrophic yellow nails, lymphedema and chronic respiratory disorders is the typical manifestation of the disease but some variations have been described as well as associations with chylothorax, chylous ascites, intestinal lymphangiectasia, thyroid abnormalities, ma...

Dyskeratosis congenita is a rare congenital disorder characterized by a triad of reticular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membrane. Sometimes it is associated with bone marrow failure, secondary malignancy and interstitial lung disease. Though it is rare, Dyskeratosis congenita is diagnosed relatively easily when clinicians suspect it. It can be diagno...