Cutaneous Manifestations of Cystic Fibrosis

Abstract

Cystic fibrosis (CF) is an autosomal recessive affliction triggered by genetic mutations in the cystic fibrosis transmembrane conductance regulator. The lung and pancreas are the most frequently affected organs in cystic fibrosis, cutaneous involvement is undervalued and underdiagnosed. Skin lesions observed in patients diagnosed with cystic fibrosis are not well known and can create confusions with other dermatological diseases. The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.

A Case Report of Cystic Fibrosis Complicated by Burkholderia Cepacia and Cutaneous Vasculitis

“…Our patient's manifestation of CF cutaneous vasculitis is consistent with other reports, namely, a palpable purpuric rash localized to the lower extremities, which appear in association with IECF [1,5,10]. Additionally, we noticed a clear correlation between the worsening of the vasculitis and episodes of IECF, but there is no evidence to support causation.…”

“…While pulmonary and pancreatic involvement is most frequent and therefore best studied, the cutaneous manifestations are frequently dismissed and underdiagnosed, despite being important markers of disease severity [2]. As much as 75% to 90% of patients who were diagnosed with purpura did not survive beyond two years [1,3,6]. Furthermore, if the cutaneous vasculitis becomes systemic, patients can expire as early as 10 days after rash onset [4].…”

“…Cutaneous vasculitis is an unusual but well-established complication of cystic fibrosis (CF) that may serve as a predictor of severe lung disease [1]. It affects 2% to 3% of CF patients, although skin lesions are underestimated and, therefore, underdiagnosed [2].…”

“…It affects 2% to 3% of CF patients, although skin lesions are underestimated and, therefore, underdiagnosed [2]. However, it is crucial to recognize CF-related vasculitis as although is usually cutaneous, the vasculitis may become disseminated [1,3]. This necessitates prompt management with steroids and immunosuppressive treatment, as it may become systemic and rapidly fatal [1,4].…”

“…However, it is crucial to recognize CF-related vasculitis as although is usually cutaneous, the vasculitis may become disseminated [1,3]. This necessitates prompt management with steroids and immunosuppressive treatment, as it may become systemic and rapidly fatal [1,4]. To date, there is only one study, comprised of four patients, which established and explored the association between reactive skin presentations and chronic Burkholderia cepacia complex (BCC) infections in CF patients [5].…”