151 Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation

Familial Progressive Hyperpigmentation: A Case Report

Familial progressive hyperpigmentation (FPH) is a rare genodermatosis characterized by hyperpigmented patches in the skin and mucous membranes, present in early infancy, and increase in size and number with age. The genetic basis for FPH remains unknown. We report an unusual case of familial progressive hypermelanosis in a 17-year-old male patient with family history, who presented with a pecul...

Progressive cribriform and zosteriform hyperpigmentation.

non-linear study of various slit shear walls in steel structures

seismic retrofit strategies have been developed in the past few decades following the introduction of new seismic provisions and the availability of advanced materials and methods. it can be observed that new approaches to deal with more lateral forces are more innovative and more energy absorbent. in line with this, there is a growing trend toward the use of steel shear walls as a system with ...

Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation.

Sir, Facial angiofibromas are flesh colored or red papules located centrofacially, especially on the nose, cheeks, and chin and represent a major criterion of tuberous sclerosis (TS). Unilateral facial angiofibromas (UFA) have been occasionally reported in literature. We present a case of UFA in a 36-year-old patient without other features of TS, review each case of previously described UFA and...

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...