Congenital self-healing reticulohistiocytosis (Hashimoto-Pritzker disease): ten-year experience at Dallas Children's Medical Center.

The real incidence of congenital self-healing reticulohistiocytosis (CSHR) may be underreported because of its high rate of spontaneous resolution and lack of clinical recognition. Currently, there are no criteria other than clinical that can reliably distinguish CSHR from cutaneous involvement by disseminated Langerhans cell histiocytosis (LCH). In this study we investigate the role of E-cadherin, Ki-67, and phosphorylated histone H3 (PHH3) immunohistochemical stains in distinguishing CSHR from disseminated LCH. We found that no significant difference was seen in the histologic features and the expression of E-cadherin, Ki-67, and PHH3 between the two groups; thus supporting the theory that CSHR and LCH represent different ends of a spectrum of the same condition.

Hypersensitivity reactions in neonates and infants.

Although rare, several hypersensitivity reactions can occur in the infant population. Several types of hypersensitivity reactions are discussed, including urticaria, drug eruptions, erythema multiforme, allergic contact dermatitis, and vasculitis (acute hemorrhagic edema of infancy); neonatal lupus also is discussed. Although most of these conditions are benign, their presentations can be dramatic and a cause of concern for both parents and physicians. Important considerations and differences in the diagnosis and management of these conditions in children under the age of 6 months are discussed.

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

Primary annular plaque-type psoriasis.

We described two adolescent girls with untreated, consistently annular, plaque-type psoriasis without pustules, a presentation that is to our knowledge, not previously described. No typical confluent plaque-type lesions were present. The plaques in our patients resembled other entities such as tinea corporis and erythema annulare centrifugum, given the erythematous, scaling borders and central clearing. Biopsy specimens from our patients showed features characteristic of psoriasis vulgaris. Both patients responded to combination therapy with calcipotriene and a mid-potency steroid. We conclude that primary annular plaque-type psoriasis shares features of both typical plaque-type and annular pustular psoriasis, suggesting that these entities represent a spectrum of psoriatic disease.

Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).

Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hünermann syndrome. We present two newborns with characteristic ichthyosiform erythroderma noted at birth. Radiographs demonstrated chondrodysplasia punctata in one patient. Although the x-ray performed at birth was negative in the other patient, sterol analyses of the keratotic scales were diagnostic for CDPX2. Skin biopsies from both patients showed thick laminated orthokeratosis and prominent keratotic follicular plugs containing dystrophic calcification. We also retrospectively examined 20 cases of various types of ichthyosis seen over a 23-year period at our institution. Intracorneal calcium deposition was not seen in any of these cases. As demonstrated by our cases and review of the literature, dystrophic calcification in the keratotic plug is a distinctive histopathologic feature of Conradi-Hünermann-Happle syndrome in newborns and is not seen in other known forms of ichthyoses.

Self-healing juvenile cutaneous mucinosis.

A healthy 14-month-old black girl presented with a 3-week complaint of "knots" on the face and hands. The lesions were acute in onset and asymptomatic. Multiple, firm, nontender, skin-colored to erythematous nodules were noted on the scalp, forehead, axillae, lower legs, abdomen, and hands. A skin biopsy specimen revealed a well-circumscribed accumulation of mucin in the reticular dermis. Colloidal iron stain was positive. Radiographs showed soft tissue prominence only. Serum protein electrophoresis, thyroid function tests, complete blood count, sedimentation rate, and antinuclear antibody were normal, except for lymphocytosis. Findings were consistent with self-healing juvenile cutaneous mucinosis (SHJCM). SHJCM is a condition of unknown etiology characterized by rapid onset of asymptomatic, indurated papules or nodules. Affected children may have arthralgias, but are otherwise well. Spontaneous resolution is the rule. Most skin lesions in our patient had resolved within 6 months of onset. This patient is unique because of the young age of onset.

Rofecoxib-induced instant aquagenic wrinkling of the palms.

An 18-year-old woman presented with a 3-week complaint of exaggerated palmar wrinkling and swelling following brief exposure (1-2 minutes) of her hands to water. She had a history of mixed connective tissue disease and had been started on rofecoxib therapy 1 month prior to the onset of her skin symptoms. Discontinuation of rofecoxib was followed by resolution of symptoms within a period of 3 weeks. Similar palmar skin changes following water exposure have been reported to occur in cystic fibrosis and are thought to be due to increased salt content of the skin and secondary increased water-binding capacity. Rofecoxib is a selective COX-2 inhibitor that has been shown to increase sodium reabsorption in the kidney via effects on prostaglandin E2 and the renal vasculature. The COX-2 protein is also expressed in keratinocytes and plays a role in keratinocyte differentiation. Prostaglandin E2 also plays a role in keratinocyte proliferation and differentiation. Thus rofecoxib may cause increased sodium reabsorption in the skin, as it does in the kidney. The rofecoxib-associated elevation in skin sodium may increase keratin water-binding capacity and cause exaggerated aquagenic wrinkling of the skin, as occurs in cystic fibrosis.