Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.

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Yellow nail syndrome is an extremely rare syndrome that presents with a clinical triad of thickened yellow nails, lymphedema, and recurring pulmonary manifestations (pleural effusion, chronic cough, or bronchiectasis), usually in the population above the age of 50 years. We describe a case of yellow nail syndrome in a 48-year-old lady who presented with the typical classical triad of this syndrome.

Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the MAF (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature till date. To the best of our knowledge, this is the first detailed case report of a boy with Ayme Gripp syndrome from our country. Although he had multiple typical features of the syndrome along with a known pathogenic variation in the MAF, cataract was not observed in him at the age of seven years.

Yellow nail syndrome is a rare condition that presents as a clinical triad of chronic respiratory symptoms, lymphedema, and yellow, dystrophic nails. We present the case of a patient with yellow nail syndrome who had yellow, thickened nails unresponsive to antifungal treatment with concomitant lower-extremity lymphedema and a negative pulmonary workup despite chronic cough. His nails responded well to treatment with vitamin E and pulsed fluconazole.

Yellow nail syndrome (YNS) is a constellation of clinical findings including at least 2 of the 3 features of thickened yellow nails, respiratory tract involvement, and lymphedema. We report the case of a middle-aged man presenting with dystrophic, thickened yellow nails; an idiopathic pericardial effusion in the absence of pleural effusion(s); and unilateral apical bronchiectasis found on computed tomography of the chest. This represents a unique presentation of YNS as the first report of a patient with YNS and a pericardial effusion in the absence of pleural effusions and lymphedema and is the 11th case report of YNS with pericardial effusion.

Dyskeratosis congenita (DC) is a rare hereditary disorder characterized by bone marrow failure, cancer predisposition (11-fold increase compared to general population), ectodermal dysplasia (nail dystrophy, oral leukoplakia, and abnormal skin pigmentation) and other additional somatic abnormalities. A 22-year-old man presented with fever, chills, and a painful throat. Leukoplakia was noted on his tongue and some of his fingers and toe nails were markedly dystrophic. His skin seemed spotted with pigmentation on the anterior chest and neck. Patient reported family history of \"blood disease\" and leukemia. He was admitted for the management of neutropenic fever (102.9 °F, WBC: 940, ANC: 404, platelets: 21,000 and Hb: 9.2), and was put on broad spectrum antibiotics. A bone marrow biopsy revealed normocellular marrow with erythroid predominance and mild dyserythropoiesis. Chromosomal analysis indicated no numerical or structural chromosomal abnormalities. The fluorescence in situ hybridization report did not reveal any assay specific abnormalities. Viral marker for hepatitis and studies of autoimmune antibodies showed negative results. CT scan had shown splenomegaly. Patient was discharged after he has been fever and symptoms free, with a follow-up at hematology clinic. Individuals with DC most commonly present with skin pigmentation, dystrophic nails and leukoplakia, as presented in this case. Genetic abnormality was not confirmed in our patient, but it is suggested that X-linked recessive pattern would be significant because of greater prevalence in men than in women (10:1). The distribution of blood counts and bone marrow biopsy categorizes our patient in the moderate aplastic anemia class which is the most prevalent pattern. When fever in young patients with a failing bone marrow is diagnosed, it is important that physicians rule out the possible underlying causes. DC is a rare disease, but can be diagnosed by simple inspection of the mucocutaneous abnormalities. DC is a severe multisystem disorder associated with premature morbidity and mortality. We believe that reporting this case would add more information to the existing fund of knowledge.