A real-life werewolf, or the world's HAIRIEST man?
Larry Gomez, of San Bernardino, California, was born with congenital generalized hypertrichosis - a rare genetic disorder that strikes less than 100 people worldwide.
We report a case of 22-month-old female child presenting to us with severe failure to thrive, dysmorphic features, hirsutism, external ophthalmoplegia epilepsy, and neuroregression with characteristic findings of Leigh’s syndrome on neuroimaging and her muscle biopsy revealed evidence of mitochondrial respiratory chain defect involving complex IV and SURF1 mutation.
Abstract Segmental odontomaxillary dysplasia (SOD) is a rare condition of unknown incidence, with approximately 60 cases reported (as reviewed in 2018)1 . It presents at birth or during childhood with a constellation of ipsilateral facial signs: non-progressive/slowly-progressive overgrowth or undergrowth of soft tissues and/or bones (typically centred on the posterior maxilla, and leading to facial asymmetry), dental anomalies (missing teeth or abnormal dentition), gingival hyperplasia or abnormal gingivae, commissural lip fissures, hypertrichosis, cutaneous hyperpigmentation and/or erythema, cutaneous depression...
ConclusionThe authors describe a new laser technique for depigmentation and epilation and their experience in the treatment of CMN with hypertrichosis. Data collected in this study showed first of all an extreme safety and tolerability of the procedure in children and young patients, with no adverse effects such as skin atrophy, pathological scarring and aesthetic improvement.Level of evidence: Level I, therapeutic; risk/prognostic study.
A 56-year-old woman with no history of comorbidities or medication intake presented with a 1-year history of blisters and erosions affecting the dorsum of the hands, forearms, cheeks, and forehead. She complained of pain and burning at those sites, and lesions were refractory to potent topical corticosteroids and antibiotics. On physical examination, she had a localized eruption consisting of erosions, blisters, and milia on the dorsum of hands (Figure 1A). On the face, she presented with erosions and mild hypertrichosis.
A 56-year-old woman with no history of comorbidities or medication intake presented with a 1-year history of blisters and erosions affecting dorsum of the hands, forearms, cheeks, and forehead. She complained of pain and burning at those sites and lesions were refractory to potent topical corticosteroids and antibiotics. On physical examination, she had a localized eruption consisting of erosions, blisters, and milia on the dorsum of hands (Figure 1). On the face, she presented with erosions and mild hypertrichosis.
ogie pédiatrique Abstract Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism (CD) and occult spinal dysraphism (OSD) may be discovered via evocative skin signs present at birth or appearing later in childhood or even in adulthood. This review describes the various types of skin signs associated with CD and OSD. All congenital midline skin lesions, particularly on the frontonasal area, the vertex or the occipitocervical and low back regions, should prompt suspicion of underlying dysraphism. Th...
A 77-year-old woman of Indian ethnicity with end-stage renal failure (ESRF) had been on maintenance hemodialysis since 2012. She initially noted patches of hypertrichosis on her arms. Over the next 3 months, she developed hyperpigmentation, crusted erosions, and bullae (Figure 1). Skin and hair changes were evident on the face, forearms, and dorsum of the hands (Supplementary Figure S1). She went on to develop skin blistering, which left scars. On examination, there were crusted erosions on the forearms and intact bullae on the sides of her fingers (Figure 2).
CONCLUSIONS: New studies incorporated in this review indicate that rituximab is a valuable additional agent for managing children with steroid-dependent nephrotic syndrome. However, the treatment effect is temporary, and many children will require additional courses of rituximab. The long-term adverse effects of this treatment are not known. Comparative studies of CNIs, MMF, levamisole and alkylating agents have demonstrated little or no differences in efficacy but, because of insufficient power; clinically important differences in treatment effects have not been completely excluded. PMID: 32297308 [PubMed - in process]
Roberto Mendez-Gallart, María García-Palacios, Jorge Cortizo-Vazquez, Adolfo Bautista-CasasnovasIndian Journal of Dermatology, Venereology, and Leprology 2020 86(3):311-313
Rationale: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs∗10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. Patient concerns: The patient demonstrated typical...