KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.

BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare genodermatosis characterized by keratitis, neurosensorial auditory impairment and ichthyosiform skin involvement. Frequent complications of the syndrome are chronic, opportunistic cutaneous infections, and the development of skin cancers. Several cases of association between KID syndrome and other conditions, including hidradenitis suppurativa (HS), are described in the literature. This correlation could be explained by the hyperproliferative state of the epidermis, which occurs in KID syndrome and may favor follicular plugging. OBJECTIVES: The aim of this study was to describe a very rare case of association between KID syndrome and HS and its complex therapeutic management. RESULTS: The failure of the drugs commonly used in HS and the excellent results of surgery, although difficult to achieve, were experienced. CONCLUSION: Despite the technical difficulties related to surgery, namely, cutaneous superinfections, frequent dehisce of the suture, and closure by secondary intention, the authors strongly recommend the surgical approach in these patients.

Remote Control of Cellular Functions: The Role of Smart Nanomaterials in the Medicine of the Future.

The remote control of cellular functions through smart nanomaterials represents a biomanipulation approach with unprecedented potential applications in many fields of medicine, ranging from cancer therapy to tissue engineering. By actively responding to external stimuli, smart nanomaterials act as real nanotransducers able to mediate and/or convert different forms of energy into both physical and chemical cues, fostering specific cell behaviors. This report describes those classes of nanomaterials that have mostly paved the way to a "wireless" control of biological phenomena, focusing the discussion on some examples close to the clinical practice. In particular, magnetic fields, light irradiation, ultrasound, and pH will be presented as means to manipulate the cellular fate, due to the peculiar physical/chemical properties of some smart nanoparticles, thus providing realistic examples of "nanorobots" approaching the visionary ideas of Richard Feynman.

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement. He also presented a cochlear dysplasia and harbored a reported mutation (p.A47Rfs*42) in TMEM5, detected using targeted next-generation sequencing. The relatively milder muscular phenotype and associated structural brain abnormalities distinguish this case from previously reported patients with severe dystroglycanopathies and expand the spectrum of TMEM5-associated disorders.

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to the phenotype, mutant yeast strains were generated. A significant defect in strains carrying the Sdh2 mutation, either alone or in combination with the cytb variant, was observed. Our data suggest that the SDHB mutation was causative of the mitochondrial disorder in our patient with a possible cumulative contribution of the MT-CYB variant. To our knowledge, this is the first association of bi-genomic variants in the mtDNA and in a nuclear gene encoding a subunit of complex II.

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks.

Desmoplastic melanoma of the nail.

Desmoplastic melanoma represents a variant of melanoma that is difficult to diagnose because 71% of patients have amelanotic skin lesions. In the acral region of the limbs, the clinical diagnosis is more difficult, especially in cases in which there are not clear, rapidly growing, pigmented nail streaks. Histopathological identification of desmoplastic melanoma is confusing because of the intense fibrous reaction in the dermis and minimal, atypical melanocytic proliferation at the dermal-epidermal junction. For these reasons, it is still misdiagnosed unfortunately as a variety of entities, including simple scar, fibrohistiocytic neoplasms, neural tumors, and superficial fibromatoses-with potentially devastating consequences. In equivocal cases, the use of immunohistochemistry (in particular S-100 and neuron-specific enolase) may be helpful in establishing the diagnosis. Because of the high local recurrence rate for desmoplastic melanoma of the finger, amputation is recommended in an effort to gain effective tumor control. Lymph node dissection may be reserved for patients with positive axillary nodes.