Keratosis follicularis spinulosa decalvans: A report of three cases

Malvankar, Dipali D; Sacchidanand, S

doi:10.4103/0974-7753.167461

Cited by 15 publications

(9 citation statements)

References 12 publications

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“…IFAP syndrome is characterized by non-scarring alopecia in contrast to KFSD. The other two conditions can be also be differentiated by thorough clinic-pathological examination [5]. There is no specific treatment for KFSD.…”

Section: Discussionmentioning

confidence: 99%

Keratosis Follicularis Spinulosa Decalvans: A New Observation

Elmahi¹,

Elloudi²,

Gallouj³

et al. 2017

IJCDR

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Section: Discussionmentioning

confidence: 99%

Keratosis Follicularis Spinulosa Decalvans: A New Observation

Elmahi¹,

Elloudi²,

Gallouj³

et al. 2017

IJCDR

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“…Mutations in MBTPS2 lead to X-linked moderate OI as well as other syndromes depending on the location of the mutation (Lindert et al 2016 ). These include IFAP/BRESHECK, characterized by ichithyosis follicularis, atrichia and photophobia (Corujeira et al 2013 ), keratosis follicularis spinulosa decalvans (KFSD), characterized by scarring alopecia of the scalp, eyebrows and axillae (Malvankar and Sacchidanand 2015 ), and Olmsted syndrome, characterized by bilateral mutilating transgradient palmoplantar keratoderma and periorificial keratotic plaques (Duchatelet and Hovnanian 2015 ). Of these only the first shows skeletal abnormalities and vertebral anomalies, including scoliosis and chest hypoplasia.…”

Section: Er Stress Response In Oimentioning

confidence: 99%

Collagen transport and related pathways in Osteogenesis Imperfecta

et al. 2021

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Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far from comprehending the complete mechanism. In the last years, the advent of next generation sequencing has triggered the discovery of many new genetic causes for OI, helping to draw its molecular landscape. It has become clear that, in addition to collagen type I genes, OI can be caused by multiple proteins connected to different parts of collagen biosynthesis. The production of collagen entails a complex process, starting from the production of the collagen Iα1 and collagen Iα2 chains in the endoplasmic reticulum, during and after which procollagen is subjected to a plethora of posttranslational modifications by chaperones. After reaching the Golgi organelle, procollagen is destined to the extracellular matrix where it forms collagen fibrils. Recently discovered mutations in components of the retrograde transport of chaperones highlight its emerging role as critical contributor of OI development. This review offers an overview of collagen regulation in the context of recent gene discoveries, emphasizing the significance of transport disruptions in the OI mechanism. We aim to motivate exploration of skeletal fragility in OI from the perspective of these pathways to identify regulatory points which can hint to therapeutic targets.

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“…It is classified as in the group of keratosis pilaris atrophicans which is manifested by follicular hyperkeratosis and scarring. It is (Malvankar and Sacchidanand 2015).…”

Section: Keratosis Pilaris Spinulosa Decalvansmentioning

confidence: 99%