Four cases of prolidase deficiency were reported. The first case, a 25-year-old female patient, was particularly complex. She presented chronic ulcers of the lower limbs, diffuse telangiectasias of the forearms and hands, mental retardation, bone and dental abnormalities, poliosis, hirsutism and splenomegaly. The pathogenesis and the disappointing treatment of this inherited disorder are discussed.
In these dermatoses the blister is due to an alteration of the structures allowing the adhesion between the single keratinocytes or between the basal cells of the epidermis and the underlying dermis. The alteration of the structures of adhesion occurs because such structures are the target of an autoimmune reaction of the immune system. This reaction in turn occurs in genetically predisposed subjects, following events, usually trivial, which modify the antigenic properties of the same structures.
Erythema multiforme is a syndrome, which can be caused by different etiological factors. The most frequent of these factors is Herpes Simplex Virus. This is probably why erythema multiforme is characteristically recurrent. However, erythema multiforme can be caused by other very numerous biotic and non biotic agents. Here are reported four children with an erythema multiforme-like dermatitis. The latter started two weeks after bullous pyoderma caused by Staphylococcus aureus. The dermatitis ran an acute clinical course and did not recur in the 18-month period of follow-up.
Orofacial and anogenital granulomatosis represent two aspects of the same chronic inflammatory disease of unknown etiology but related to Crohn’s disease (2). This granulomatosis is clinically characterized by initially of short duration and self-healing, but later persistent edema; characteristically, several months after the onset edema is associated with clinically evident, sometimes painful lymphangectasias. When there are lymphangiectatic vesicles the disease can be hardly differentiated form lymphangioma: the latter is not associated with evident inflammation, its vesicles are often hemorrhagic and the histology shows no granulomatous infiltrate. Topical, intralesional and systemic corticosteroids are the most effective therapy of orofacial and anogenital granulomatosis. In the literature, there are also cases of adults successfully treated with azathioprine (1) and anti-TNF biologics.
Acrocyanosis (A) is a persistent condition in which the extremities are cold and blue without a clear demarcation. A is related to an altered vascular tone with arteriolar vasoconstriction and venous vasodilation. A is frequently observed in adolescents, especially in cold weather, but it is exceptional in children. A is seen most easily in children with attention deficit hyperactivity disorder treated with psychostimulant drugs (1). The most frequent side effects of propranolol, which is the drug of choice to treat hemangioma are sleep disorders and A (3). These side effects could be linked to each other; there are cases in the literature of A occurring only when the baby is awake, but not when he sleeps (2). It would be useful to verify whether atenolol, a hydrophilic beta blocker that does not cross the blood-CNS barrier, has a different incidence of acrocyanosis.
Urticaria is an inexhaustible source of diagnostic errors (1). Urticaria, bruising and arthritis are associated in Henoch-Schoenlein disease and in some autoinflammatory diseases such as CINCA and Schnitzler syndrome (2). In all these conditions there are other clinical signs and laboratory tests show obvious abnormalities. On the other hand, both in hemorrhagic urticaria and urticaria with pseudoarthritis there are no other symptoms ; moreover, laboratory tests do not show significant changes. Bruising in urticaria is due to excessive vasodilation with extravasation of red blood cells through a no longer continent endothelium. Moreover, edema occurring in periarticular skin can result in functional impairment and joint pain. The absence of other symptoms and objective signs and especially the rapid disappearance of symptoms with the regression of edema facilitates the diagnosis.
Urticaria is easily diagnosed when it lasts a few hours especially when its cause is referred by the same patient. When urticaria lasts longer physicians need to focus on lesions in visible locations, especially of the face, whose duration and regression without outcomes is more easy to remember for the patient. Even the distribution of lesions, the presence of very different in diameter lesions and their smoothness are helpful for the diagnosis. Diagnostic pitfalls also arise in hemorrhagic urticaria; however, it is not affected by orthostatic factor and therefore differs from vasculitis. Urticaria, when accompanied by important deep edema and localized in the joint, can cause functional impairment simulating arthritis: the complete healing within a few hours makes the diagnosis easier. In our case the bulbar urethra constriction caused by edema and the resulting difficulty with urination led to suspect a urinary tract infection.
In the literature erysipelas has been not associated with port-wine stain, except for a case we described (1). Erysipelas is an acute superficial cellulitis, caused by group A beta-hemolytic Streptococcus; it can be also observed in the normal child. Contributing factors are breaks of the skin integrity, being overweight, venous insufficiency, lymphedema, diabetes, immune deficiency, and nephrotic syndrome (3). In our case the contributing factors were overweight and probably port-wine stain. In port-wine stain and especially in cases with limb asymmetry, the blood capillary malformation is often associated with lymphatic malformations and secondary bad drainage. Some Authors (2) showed that in patients with recurrent erysipelas of a limb there is a defective lymphatic drainage also in the not affected limb. Therefore, anyhow induced lymphatic stasis favors the onset of erysipelas.
The incidence of prepubertal melanoma is not raising in children, unlike adolescent and adult (24). Its incidence therefore remains so low that no center is able to do statistics only based on its cases. Over the past 40 years in five Italian Pediatric Dermatology centers 15 cases of melanoma in children aged under 12 years were observed, 4 of which associated with large or multiple congenital melanocytic nevi. The latter, including two cutaneous melanomas arising on congenital melanocytic nevi and 2 meningoencephalic melanomas, started early - average age at diagnosis 18 months - and had poor prognosis quoad vitam. The 11 melanomas arising on normal skin – 8 cases – or associated with small congenital – 1 case – or acquired – 2 cases – melanocytic nevi started at a later age - average age 9.2 years - and had a good prognosis despite average thickness of 2 mm and lymph node involvement in 3/11 cases. These two categories of prepubertal melanoma, though so different from each other, shared the same nodular or ulcerative non specific, often amelanotic clinical appearance. Therefore, they were different and more difficult to be diagnosed as compared with pigmented and usually initially superficial spreading adult melanoma.