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Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.

Cell adhesion and communication are interdependent aspects of cell behavior that are critical for morphogenesis and tissue architecture. In the skin, epidermal adhesion is mediated in part by specialized cell-cell junctions known as desmosomes, which are characterized by the presence of desmosomal cadherins, known as desmogleins and desmocollins. We identified a cadherin family member, desmoglein 4, which is expressed in the suprabasal epidermis and hair follicle. The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as we

Split cord malformations: A two years experience at AIIMS.

BACKGROUND: Over a 2-year period, 2008-2009, a total of 53 cases of split cord malformation (SCM) were treated at the All India Institute of … scoliosis and 4 had kyphosis. Deformity of foot was recorded in 10 patients. Thirteen patients had hypertrichosis, while four had dermal sinus. Magnetic resonance imaging (MRI) was performed in all patients. MRI revealed syringomyelia in 14 patients; however, only one patient had associated Chiari malformation. Six patients had meningomyelocele. Intra-operative …

Laser hair removal: long-term results with a 755 nm alexandrite laser.

BACKGROUND: Hypertrichosis is a common problem for which laser hair removal is becoming the treatment of choice. Optimal wavelength, pulse duration, spot size, fluence, and skin cooling parameters for various skin types have not yet been firmly established. OBJECTIVE: To evaluate the long-term efficacy and safety of a 3-msec 755 nm alexandrite laser equipped with a cryogen cooling device for patients with Fitzpatrick skin types I-V. METHODS: Eighty-nine untanned patients with skin types I-V underwent a total of 492 treatments of laser hair removal over a 15-month period. Each patient in the …

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums of the KMT2C-related NDD (now designated as Kleefstra syndrome 2) are largely unknown. We ascertained 98 individuals with rare KMT2C variants, including 75 with protein-truncating variants (PTVs). Notably, ∼15% of KMT2C PTVs were inherited. Although the most highly expressed KMT2C transcript consists of only the last four exons, pathogenic PTVs were found i

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

BACKGROUND: Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause. METHODS: Whole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic

Atypical B12 deficiency with nonresolving paraesthesia.

Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. We report a case of elderly female who presented with neuropathy and vitamin B12 deficiency where the final work-up revealed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS). This case suggests that, although POEMS syndrome is a rare entity, it can present with vitamin-B12 deficiency and thus specific work up for early diagnosis of POEMS should be considered in patients with B12 deficiency unresponsive to therapy.

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… the presence of at least one of the six minor criteria organomegaly (splenomegaly, hepatomegaly, or lymphadenopathy), extravascular volume overload (edema, pleural effusion, or ascites), endocrinopathy (adrenal, thyroid, pituitary, gonadal, parathyroid, pancreatic), Skin changes (hyperpigmentation, hypertrichosis … Skin changes [ 8 , 9 ] (hyperpigmentation, hypertrichosis, acrocyanosis, plethora, and hemangioma/telangiectasia) are noted in two thirds of patients. Osteosclerotic bone lesions appeared in conventional radiographs in 97 percent of patients in the Mayo Clinic study. …

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the

Spinal dysraphism: trends in northern India.

OBJECTIVE: To evaluate the clinical profiles, image findings and surgical outcome of 155 cases of spinal dysraphism. METHODS: 155 patients … od of 3.6 years. RESULTS: MMC sac was the commonest skin manifestation seen in 89/155 cases (57%). Hypertrichosis and previous operative scar were noticed in 24 cases each (15%). Cutaneous hemangioma, skin tag and multiple neurofibroma were the other common superficial skin manifestations. Clinically, 103 patients (66.5%) had variable weakness of the lower limb …

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Achromatopsia (ACHM) is a severe retinal disorder characterized by an inability to distinguish colors, impaired visual acuity, photophobia and nystagmus. This rare autosomal recessive disorder of the cone photoreceptors is best known for its increased frequency due to founder effect in the Pingelapese population of the Pacific islands. Sixteen patients from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two

Skin manifestations associated with systemic diseases - Part II.

The skin, by reflecting internal processes, externalizes what happens inside the body in many diseases. Thus, the skin, as an organ, extrapolates its functions of protection, barrier and signals the existence of systemic diseases, expanding the importance of the dermatologist beyond the skin surface. Thus, the dermatologist investigates diagnostic hypotheses for conditions related to all systems and refers patients to the appropriate specialty. Combined with examination by a trained eye, the skin, due to its easy access, is still the ideal place for performing biopsies, which often clarify the

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… Other findings are hypertrichosis and fibrous scarring. 24 e) Wilson’s Disease Wilson’s Disease (WD) is a disorder of copper metabolism that leads to its accumulation in the liver, but also in other organs and tissues. … Hypertrichosis lanuginosa acquisita: it is one of the most consistent cutaneous associations with neoplasms, 38 with adenocarcinoma of the gastrointestinal tract being the most common. …

Cutaneous adverse events to systemic antineoplastic therapies: a retrospective study in a public oncologic hospital.

BackgroundMucocutaneous adverse events are common during anticancer treatment, with variable consequences for the patient and their therapeutic regimen.ObjectiveTo evaluate the most common adverse events, as well as the drugs associated with their appearance and the consequences for cancer treatment.MethodsA retrospective study was carried out through the analysis of patients treated at the Clinical Dermatology Unit of a public oncologic hospital.ResultsA total of 138 patients with 200 adverse events were evaluated. The most commonly identified adverse events were nail and periungual changes (

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… identified (1) a Exanthemas | 9 (4,5) | Carboplatin and paclitaxel (1), Dasatinib (1), Gemcitabine (1), Imatinib (1), Irinotecan and panitumumab (1), Panitumumab (1), Sorafenib (1), Not identified (2) a Flagellate dermatitis | 8 (4) | Bleomycin (8) Trichomegaly | 5 (2,5) | Panitumumab (4), Gefitinib (1) Hypertrichosis … Hair shaft changes were present in ten patients (four with trichomegaly, four with hypertrichosis, one with trichomegaly and hypertrichosis, and one with hair-shaft repigmentation) and accounted for 5.5% of the AEs. …

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

BACKGROUND: Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple cardiovascular abnormalities. OBJECTIVE: The purpose of this study was to better determine the electrophysiologic consequences of such GOF mutations in the heart. METHODS: We generated transgenic mice (Kir6.1-GOF) expressing ATP-insensitive Kir6.1[G343D] subunits under α-myosin heavy chain (α-MHC) promoter control, to target gene expression specifically in cardiomyocytes, and performed patch-clamp experiments on isolated ventricular myocytes

Premature hair graying: a multifaceted phenomenon.

Premature hair graying (PHG) is the early loss of natural hair color, influenced by genetic, biological, and environmental factors. This review discusses the significant psychological impacts of PHG and explores its underlying mechanisms, related health conditions, and available treatments. The review examines the roles of genetics, oxidative stress, and lifestyle factors such as smoking and diet in premature graying. It also considers associated medical conditions and current and emerging treatment options. This overview aims to improve understanding of PHG and its broader implications.

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… the hair follicle to lengthen the anagen phase of the hair cycle, increase microcirculation to the follicle, stimulate growth, and promote the release of growth factors. 62 Topical minoxidil has demonstrated efficacy and safety, with rare and typically mild side effects, including local irritation, hypertrichosis … Cyclosporine A, a medication that selectively inhibits helper T cells, has been shown to facilitate hair repigmentation in psoriasis patients. 95 , 96 Interestingly, hypertrichosis has been identified as the most common adverse effect of cyclosporine A. 97 This medication downregulates an inhibitor of …