BackgroundLongitudinal melanonychia (LM) can be a challenging sign since it may be caused by a wide variety of benign and malignant conditions. Cutaneous melanoma is the most important cause of LM. Objective: We performed this study to examine different aspects of LM in Iran, where cutaneous melanoma is rare.MethodsIn this cross-sectional study, we reviewed medical records and pathology reports of a total of 96 patients presenting with LM. These patients had been visited and undergone nail biopsy in Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran. Demographic, clinical, and pathological data were recorded.ResultsThe most common diagnosis was junctional nevi in 28 patients (29.2%) followed by melanoma in 19 patients (19.8%). Patients had a mean age of 42.4 years (± 19.4). The mean ages in the groups with junctional nevi and melanoma were 33.3 (± 19.5) and 51.9 (± 17.8), respectively; their difference was statistically significant (P value = 0.001). Hutchinson’s sign was present in 10 patients, 9 of which had melanoma. Also, melanoma was only observed in patients presenting with a solitary nail lesion. Nails mostly affected by melanoma were middle fingers of the hands (7 patients) and thumbs (6 patients). Out of 18 patients with nail dystrophy, 13 (72.2%) were diagnosed with melanoma.LimitationsOnly patients who have undergone biopsy were studied.ConclusionMelanoma is an important cause of LM in Iranian patients and should especially be suspected in older patients who present with a solitary nail lesion on their middle finger or thumb. Other findings that direct us toward melanoma are presence of Hutchinson’s sign and nail dystrophy.

No abstract

Dyskeratosis congenita (DKC) is a rare, inherited disorder classically known by the triad of nail dystrophy, mucosal leukoplakia, and lacy reticulated skin hyperpigmentation. Bone marrow failure is a prominent feature and accounts for most deaths in these patients. Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature aging syndrome". Different modes of inheritance have been identified with X-linked recessive as the most common. There have been reports of intracranial calcifications on neuroradiology in a few cases of DKC, but no histopathologic illustration has been provided. We report a 20-year-old female patient with autosomal dominant DKC established by TINF2 gene mutation. Neostriatal calcifications with a distinctive pattern observed on neuroimaging were confirmed by postmortem microscopic examination. In contrast to the usual pattern of basal ganglia calcification, which starts in the globus pallidus, in this case the deposits were located in the caudate and putamen, sparing the globus pallidus. Iron deposits were also detected with similar distribution. Interestingly, staining for markers of brain aging (τ, amyloid, and p62) yielded negative results. These findings could not be attributed to any other condition (i.e., hypoparathyroidism, infections, etc.). Thus, we conclude that basal ganglia calcification can be a rare feature of DKC.
.

We present a 47‐year‐old woman with a 10‐year disease course consisting of episodic confusion, aphasia, psychosis, depression, migrainous headaches and seizures. There was mild elevation of protein levels in the cerebrospinal fluid, progressive cerebral atrophy, and numerous small T1 hypointensities appearing as central “holes” in the corpus callosum on magnetic resonance imaging. She eventually expired due to status epilepticus and subsequent significant respiratory complications. In the central nervous system, there was generalized brain atrophy, and patchy labeling of blood vessels by antibodies to complement component 4d (C4d) and membrane attack complex. Innumerable small patches with loss of cell bodies (neurons and glial cells in gray matter and glial cells in white matter) and demyelination were scattered throughout the brain and spinal cord. There was no cavitation and the passing axons were mostly preserved. Large solid calcified foci were present predominantly in the pons along with disseminated focal calcification involving neuron cell bodies, neurites, and capillaries. Patchy labeling of glial cells and linear structures suggestive of myelin sheaths with C4d antibodies was observed while immunostains for SV40, tau, β‐amyloid, alpha synuclein, p62, and trans‐activation response DNA‐binding protein 43 kDa were negative. Whole‐exome sequencing did not reveal any clinically significant variants. Although the radiological findings are suggestive of Susacʼs syndrome (a rare condition characterized by encephalopathy, hearing loss, and branch retinal artery occlusion), in the absence of audiovisual manifestations, a definitive diagnosis cannot be rendered and therefore, this case may be representing a new entity. Further reports of similar cases are needed for clarification.

No abstract