Congenital Hypertrichosis Lanuginosa

Last update 01 Nov 2024

Basic Info

Synonyms

Congenital hypertrichosis lanuginosa, Congenital hypertrichosis lanuginosa (disorder), HYPERTRICHOSIS LANUGINOSA CONGENITA

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Introduction

Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.

100 Clinical Results associated with Congenital Hypertrichosis Lanuginosa

100 Translational Medicine associated with Congenital Hypertrichosis Lanuginosa

0 Patents (Medical) associated with Congenital Hypertrichosis Lanuginosa

192

Literatures (Medical) associated with Congenital Hypertrichosis Lanuginosa

01 Sep 2023·Biochimica et biophysica acta. Molecular and cell biology of lipids

Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity.

Article

Author: Smart, Eleanor ; Haslam, Iain S ; Palmer, Megan A ; Dias, Irundika H K ; Benatzy, Yvonne

The importance of cholesterol in hair follicle biology is underscored by its links to the pathogenesis of alopecias and hair growth disorders. Reports have associated defects in ABCA5, a membrane transporter, with altered keratinocyte cholesterol distribution in individuals with a form of congenital hypertrichosis, yet the biological basis for this defect in hair growth remains unknown. This study aimed to determine the impact of altered ABCA5 activity on hair follicle keratinocyte behaviour. Primary keratinocytes isolated from the outer root sheath of plucked human hair follicles were utilised as a relevant cell model. Following exogenous cholesterol loading, an increase in ABCA5 co-localisation to intracellular organelles was seen. Knockdown of ABCA5 revealed a dysregulation in cholesterol homeostasis, with LXR agonism leading to partial restoration of the homeostatic response. Filipin staining and live BODIPY cholesterol immunofluorescence microscopy revealed a reduction in endo-lysosomal cholesterol following ABCA5 knockdown. Analysis of oxysterols showed a significant increase in the fold change of 25-hydroxycholesterol and 7-β-hydroxycholesterol following cholesterol loading in ORS keratinocytes, after ABCA5 knockdown. These data suggest a role for ABCA5 in the intracellular compartmentalisation of free cholesterol in primary hair follicle keratinocytes. The loss of normal homeostatic response, following the delivery of excess cholesterol after ABCA5 knockdown, suggests an impact on LXR-mediated transcriptional activity. The loss of ABCA5 in the hair follicle could lead to impaired endo-lysosomal cholesterol transport, impacting pathways known to influence hair growth. This avenue warrants further investigation.

01 Mar 2023·Clinical Case Reports

Cantú syndrome: A new case and evolution of clinical conditions during first 2‐year follow‐up

Author: Mattiucci, Alessandra ; Zoller, Thomas ; Cassina, Matteo ; Antoniazzi, Franco ; Schena, Donatella ; Girolomoni, Giampiero

AbstractCantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac involvement, with a de novo heterozygous mutation (c.3461G > A) in the ABCC9 gene. During the annual cardiac follow‐up at the age of nine the echocardiogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long‐term follow‐up.

01 Jun 2022·American Journal of Medical Genetics Part AQ3 · BIOLOGY

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature

Q3 · BIOLOGY

Review

Author: Nigro, Vincenzo ; Musacchia, Francesco ; Mariani, Milena ; Torella, Annalaura ; Apuril Velgara, Erika Solansh ; Selicorni, Angelo

AbstractCantù syndrome (CS) is a rare multisystemic disorder, characterized by congenital hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal anomalies. From the cognitive point of view, most of the patients show a mild speech delay and a few of them present intellectual disability and learning difficulties. To date, most CS‐reported cases are caused by heterozygous ABCC9 gene mutations. Only three patients with CS and heterozygous KCNJ8 gene variants have been reported. The authors here present the fourth case of CS with a variant in KCNJ8 in a 6‐month‐old baby. Diagnosis was reached through Trio‐Whole Exome analysis that revealed a de novo missense variant in KCNJ8.

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Congenital Hypertrichosis Lanuginosa

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