BACKGROUND Cutaneous amyloidosis has been classified into primary cutaneous amyloidosis (PCA, OMIM #105250), secondary cutaneous amyloidosis and systemic cutaneous amyloidosis. PCA is the deposition of amyloid in previously apparent normal skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare distinct type of PCA. Here, the unique clinical and histological findings of...

We discuss a complicated case of a 34 year-old male with cutis verticis gyrata presenting simultaneously with hypertrophic osteoarthropathy and a pituitary macroadenoma. The patient was initially suspected of having acromegaly secondary to the pituitary adenoma but further workup showed normal insulin growth factor-1 and growth hormone levels inconsistent with acromegaly. Subsequent workup was ...

Becker's nevus is a relatively common acquired focal epidermal melanotic hypermelanosis usually found in the region of the shoulder girdle of young men. Various skeletal malformations and cutaneous dermatoses have been reported in Becker's nevus. Osteoma cutis is a rare disorder characterized by compact bone formation in the dermis or subcutaneous tissue. Secondary ossification on nevi has been...

CMTC: Cutis marmorata telangiectatica congenita PPV: Phacomatosis pigmentovascularis INTRODUCTION The coexistence of cutis marmorata telangiectatica congenita (CMTC) with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V or phacomatosis cesiomarmorata. PPV type V is a rare congenital vascular anomaly, with only 7 previous cases ment...

Aplasia cutis congenita is a rare congenital anomaly characterized by the absence of a patch of skin since birth. It may lead to life threatening complications at times. A 5-day-old neonate with Aplasia cutis congenita was received in a state of shock due to tremendous blood loss from the superior sagittal sinus. The neonate was resuscitated immediately followed by closure of the superior sagit...

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogen...

Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmen...