Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflamma...

Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in ...

Results: On average, the etiological diagnosis was established 11 months after the onset of erythroderma. The underlying causes observed included immunodeficiency (30%), simple or complex ichthyosis (24%), Netherton syndrome (18%), and eczematous or papulosquamous dermatitis (20%). Five patients (10%) had erythroderma of unknown origin. The following parameters were of value in determining the ...

Mild hirsutism and alopecia in postmenopausal women can be a normal physiological response. Sex cord stromal tumors of ovary account for approximately 5-8% of all ovarian tumors. When hirsutism is accompanied by signs of virilization such as severe balding, deepening of voice or clitoromegaly, an underlying androgen-secreting tumor, that may be malignant must be ruled out. We report a rare case...

Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic. The diagnosis of the different types ...

Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopec...

IMPORTANCE Heterotopic glial tissue is a rare, benign congenital anomaly that can present as a fibrous mass with or without overt signs of neural tissue origin, such as overlying alopecia, pigmentation, or a "hair collar" sign. These lesions are typically found in the midline area, though they have been found laterally involving the mastoid and middle ear regions. As demonstrated by this case r...

Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete...

A 13-year-old boy presented congenital, raised, yellowish colored plaques with fi broelastic consistency, which were velvety in appearance, alopecic, with clearly defi ned limits and sulci or well-marked meandering invaginations, a cerebriform appearance on the upper part of the right ear, accompanied by alopecia in the temporomandibular region-parietal. The lesion was asymptomatic. Histopathol...

In this case report, three different crossbreedings of pet rabbits were performed producing affected as well as healthy bunnies. All affected rabbits were smaller and had local alopecia, exophthalmus, and limb deviations compared to their healthy littermates; thus, a homozygous form of Pelger-Huet anomaly was suspected. This anomaly was confirmed by blood examination in which granulocytes with ...