Limits...
Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reports.

Campione E, Diluvio L, Terrinoni A, Orlandi A, Latino MP, Torti C, Pietroleonardo L, Botti E, Chimenti S, Bianchi L - BMC Res Notes (2014)

Bottom Line: Major histocompatibility complex, class I, Cw*06 was detected in both twins; we found no transglutaminase-1, no corneodesmosin, nor any Interleukin-36 receptor antagonist gene mutations.After three months of treatment, consistent clearing and significant improvement of their social and psychological behaviour were achieved.After over one year of continuous therapy with cyclosporine, the twins have still maintained the result obtained.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Tor Vergata University of Rome, Rome, Italy. campioneelena@hotmail.com.

ABSTRACT

Background: Pediatric erythroderma is a severe cutaneous disorder, which may pose diagnostic and therapeutic challenges. Psoriasis, ichthyoses, atopy, seborrhoeic dermatitis, pityriasis rubra pilaris, infections, metabolic diseases, drugs reaction, may cause erythroderma. The therapy should be tailored on each aetiology, if possible. The biochemical and metabolic imbalance should be corrected, and particular attention should be paid to the psychosocial behavior often related to this disfiguring disease.

Case presentation: Two 3 year-old Caucasian twins have been suffering from an unmanageable erythroderma since the age of 8 months. The diagnosis of psoriasis, already remarkably expressed in the father's family in three cases of fraternal twins, could be enforced for several points. Major histocompatibility complex, class I, Cw*06 was detected in both twins; we found no transglutaminase-1, no corneodesmosin, nor any Interleukin-36 receptor antagonist gene mutations. We performed a cutaneous histology, positive immunostaining for Lympho-epithelial Kazal-type-related inhibitor, dermoscopy and reflectance confocal microscopy. The twins had previously received systemic steroids, short cycles of low-dosage ciclosporine, followed by etanercept at the dosage of 0,8 mg/kg, without reliable results. Cyclosporine was then reconsidered at a dosage of 5 mg/kg/day with close blood monitoring. After three months of treatment, consistent clearing and significant improvement of their social and psychological behaviour were achieved. After over one year of continuous therapy with cyclosporine, the twins have still maintained the result obtained.

Conclusion: Pediatric erythroderma may pose a great challenge as a potentially life-threatening condition causing extreme distress in children, parents and pediatricians. In young patients it is mandatory to establish correct clinical and instrumental procedures, possibly supplemented by genetic analyses such as those we required, in order to determine an effective and safe therapy in terms of cost-benefit and put patients and family in the best condition to perform common daily activities.

Show MeSH

Related in: MedlinePlus

Clinical pictures of two 3-year-old twins. Severe pruritic erythroderma involving the entire skin surface with onychodistrophies.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4300562&req=5

Fig2: Clinical pictures of two 3-year-old twins. Severe pruritic erythroderma involving the entire skin surface with onychodistrophies.

Mentions: We visited as consultants two three-year-old Caucasian twins, sister and brother, suffering from an unmanageable erythroderma since the age of 8 months, with extreme distress for parents and pediatricians. At birth, the skin appearance and the health conditions were referred as normal in both newborns, who then had a regular growth. At the time of our visit, a slightly scaling, not exudative, severely pruritic erythroderma was affecting almost the entire skin surface with onychodystrophies in both children, and ectropion in the twin sister (Figures 1, 2). Noteworthy, their father and two other twins on the father’s side also suffer from plaque psoriasis, whereas the father’s twin sister is affected by psoriatic arthritis. Routine blood and culture tests did not show haematological, biochemical, metabolic or infective anomalies. Microscopic evaluation of Haematoxilyn & Eosin-stained paraffin sections [9] of skin biopsies performed in both twins (Figure 3a, b) disclosed marked elongation of rete ridges, almost absent granular layer and parakeratosis of epidermis associated with inflammatory cells with dilated tortuous vessels in the dermal papillae, consistent with the diagnosis of psoriasis. Positive epidermal immunostaining, stronger in the upper layers, for Lympho-Epithelial Kazal-type-related Inhibitor (LEKTI), using polyclonal antibodies D7-12 and D14-16, excluded the diagnosis of Netherton’s syndrome. Furthermore, dermoscopy and confocal reflectance microscopy (RCM) were also considered to validate the diagnosis. Trichoscopy, besides psoriatic hair casts, did not display any hair shaft anomalies as expected in Netherton’s syndrome, whereas cutaneous dermoscopy showed bushy glomerular or dotted vessels, regularly arranged, in a reddish background covered by white scales (Figure 4). RCM displayed, starting from the outer layer, bright nucleated oval cells and dark oval nuclei, described as clusters of polymorphonuclear leucocytes, reduced granular layer and preserved the honeycomb pattern of the stratum spinosum (Figure 5). The dermal papillae were visible as open black and elongated structures, increased in number and diameter. Into the dermal papillary rings, canalicular structures with refractive cells, corresponding to inflammatory cells infiltration, were detectable (Figure 6). Genetic blood investigations revealed Major Histocompatibility Complex, class I, Cw*06 (HLA-Cw*06) expression in both twins and absence of transglutaminase-1 or corneodesmosin or Interleukin (IL)-36 receptor antagonist gene mutations.Figure 1


Severe erytrodermic psoriasis in child twins: from clinical-pathological diagnosis to treatment of choice through genetic analyses: two case reports.

Campione E, Diluvio L, Terrinoni A, Orlandi A, Latino MP, Torti C, Pietroleonardo L, Botti E, Chimenti S, Bianchi L - BMC Res Notes (2014)

Clinical pictures of two 3-year-old twins. Severe pruritic erythroderma involving the entire skin surface with onychodistrophies.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4300562&req=5

Fig2: Clinical pictures of two 3-year-old twins. Severe pruritic erythroderma involving the entire skin surface with onychodistrophies.
Mentions: We visited as consultants two three-year-old Caucasian twins, sister and brother, suffering from an unmanageable erythroderma since the age of 8 months, with extreme distress for parents and pediatricians. At birth, the skin appearance and the health conditions were referred as normal in both newborns, who then had a regular growth. At the time of our visit, a slightly scaling, not exudative, severely pruritic erythroderma was affecting almost the entire skin surface with onychodystrophies in both children, and ectropion in the twin sister (Figures 1, 2). Noteworthy, their father and two other twins on the father’s side also suffer from plaque psoriasis, whereas the father’s twin sister is affected by psoriatic arthritis. Routine blood and culture tests did not show haematological, biochemical, metabolic or infective anomalies. Microscopic evaluation of Haematoxilyn & Eosin-stained paraffin sections [9] of skin biopsies performed in both twins (Figure 3a, b) disclosed marked elongation of rete ridges, almost absent granular layer and parakeratosis of epidermis associated with inflammatory cells with dilated tortuous vessels in the dermal papillae, consistent with the diagnosis of psoriasis. Positive epidermal immunostaining, stronger in the upper layers, for Lympho-Epithelial Kazal-type-related Inhibitor (LEKTI), using polyclonal antibodies D7-12 and D14-16, excluded the diagnosis of Netherton’s syndrome. Furthermore, dermoscopy and confocal reflectance microscopy (RCM) were also considered to validate the diagnosis. Trichoscopy, besides psoriatic hair casts, did not display any hair shaft anomalies as expected in Netherton’s syndrome, whereas cutaneous dermoscopy showed bushy glomerular or dotted vessels, regularly arranged, in a reddish background covered by white scales (Figure 4). RCM displayed, starting from the outer layer, bright nucleated oval cells and dark oval nuclei, described as clusters of polymorphonuclear leucocytes, reduced granular layer and preserved the honeycomb pattern of the stratum spinosum (Figure 5). The dermal papillae were visible as open black and elongated structures, increased in number and diameter. Into the dermal papillary rings, canalicular structures with refractive cells, corresponding to inflammatory cells infiltration, were detectable (Figure 6). Genetic blood investigations revealed Major Histocompatibility Complex, class I, Cw*06 (HLA-Cw*06) expression in both twins and absence of transglutaminase-1 or corneodesmosin or Interleukin (IL)-36 receptor antagonist gene mutations.Figure 1

Bottom Line: Major histocompatibility complex, class I, Cw*06 was detected in both twins; we found no transglutaminase-1, no corneodesmosin, nor any Interleukin-36 receptor antagonist gene mutations.After three months of treatment, consistent clearing and significant improvement of their social and psychological behaviour were achieved.After over one year of continuous therapy with cyclosporine, the twins have still maintained the result obtained.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Tor Vergata University of Rome, Rome, Italy. campioneelena@hotmail.com.

ABSTRACT

Background: Pediatric erythroderma is a severe cutaneous disorder, which may pose diagnostic and therapeutic challenges. Psoriasis, ichthyoses, atopy, seborrhoeic dermatitis, pityriasis rubra pilaris, infections, metabolic diseases, drugs reaction, may cause erythroderma. The therapy should be tailored on each aetiology, if possible. The biochemical and metabolic imbalance should be corrected, and particular attention should be paid to the psychosocial behavior often related to this disfiguring disease.

Case presentation: Two 3 year-old Caucasian twins have been suffering from an unmanageable erythroderma since the age of 8 months. The diagnosis of psoriasis, already remarkably expressed in the father's family in three cases of fraternal twins, could be enforced for several points. Major histocompatibility complex, class I, Cw*06 was detected in both twins; we found no transglutaminase-1, no corneodesmosin, nor any Interleukin-36 receptor antagonist gene mutations. We performed a cutaneous histology, positive immunostaining for Lympho-epithelial Kazal-type-related inhibitor, dermoscopy and reflectance confocal microscopy. The twins had previously received systemic steroids, short cycles of low-dosage ciclosporine, followed by etanercept at the dosage of 0,8 mg/kg, without reliable results. Cyclosporine was then reconsidered at a dosage of 5 mg/kg/day with close blood monitoring. After three months of treatment, consistent clearing and significant improvement of their social and psychological behaviour were achieved. After over one year of continuous therapy with cyclosporine, the twins have still maintained the result obtained.

Conclusion: Pediatric erythroderma may pose a great challenge as a potentially life-threatening condition causing extreme distress in children, parents and pediatricians. In young patients it is mandatory to establish correct clinical and instrumental procedures, possibly supplemented by genetic analyses such as those we required, in order to determine an effective and safe therapy in terms of cost-benefit and put patients and family in the best condition to perform common daily activities.

Show MeSH
Related in: MedlinePlus