Raised limb bands developing in infancy

Congenital cutaneous constriction bands are rare and often occur with other abnormalities, including the presence of rudimentary digits. This diverse syndrome lacks a precise definition and a satisfactory explanation. We describe two unusual cases with features previously undescribed, in which predominantly raised, annular limb bands became apparent postnatally. One infant was also born with foreshortened digits and a constricting limb band, suggesting a shared aetiology with other congenital cases. The development of raised bands during infancy would be difficult to reconcile with the widely held 'amniotic band hypothesis', and would be more in keeping with a multifocal developmental abnormality in limb growth.     

Acquired raised bands of infancy: association with amniotic bands

Raised limb bands are a recently described disorder characterized by skin-colored linear plaques typically located on the extremities of affected children. Various etiologies for their development have been proposed, including amniotic bands. We report a child with extensive raised bands of the trunk and extremities and documented amniotic bands in utero. We propose altering the name of this entity to reflect the wider potential distribution of the lesions. The presence of documented amniotic bands and other sequelae typical for the amniotic band sequence in this patient strongly implicates amniotic bands or related pathology in the formation of acquired raised bands of infancy.     

Coexistence of two neurocutaneous syndromes: tuberous sclerosis and hypomelanosis of Ito

Tuberous sclerosis complex (TSC) and hypomelanosis of Ito (HI) are two uncommon neurocutaneous syndromes and their coexistence is extremely rare. An epileptic child presented with progressively increasing multiple hypopigmented macules arranged in a linear and whorled pattern along the lines of Blaschko over the trunk and limbs, characteristic of HI. He also had facial angiofibromas, ash-leaf and confetti macules and shagreen patches. Magnetic resonance imaging of the brain showed cortical tubers and subependymal nodules; which are diagnostic of TSC. The TSC defining loci have been mapped to Chromosome 9q34 (TSC1) and 16 pl3.3 (TSC2). There is no common genetic background for HI, but mosaicism of 9q33 locus has been documented. As per our knowledge, this is the second case of association of TSC with HI in a four-year-old child.     

Secretion of urokinase and tissue-plasminogen activator by epidermal cells in the presence of psoriatic fibroblast-conditioned medium.

The present study examined secretion of urokinase and tissue-plasminogen activator by epidermal cells in the presence of psoriatic or uninvolved skin fibroblast-conditioned medium. Using zymographic analyses, a 54kD lysis band and a small 110kD band derived from urokinase could be detected in the harvest fluid from keratinocytes treated with both psoriatic and uninvolved fibroblast-conditioned medium, as well as very weak lysis bands of 63kD and 120kD derived from tissue-plasminogen activator in the harvest fluid treated with psoriatic fibroblast-conditioned medium, but not with uninvolved fibroblast-conditioned medium.     

CHILD syndrome: the NSDHL gene and its role in CHILD syndrome,a rare hereditary disorder

Background CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia. Patients and methods A 9‐month‐old female infant presented with skin and limb defects involving the right side of her body. Clinical and laboratory evaluation was performed, including DNA sequence analysis of the NSDHL gene. Results Our patient presented with some of the typical clinical characteristics of CHILD syndrome, i.e. two large erythematous plaques with sharp borders, covered with yellow, wax‐like scaling, on the right axilla and on the right groin, dysplastic right hand and alopecia of the right occipital area. The diagnosis was confirmed by DNA screening analysis, that detected a missense mutation c.314C→T;p‐A105V, in the coding region of the NSDHL gene (exon4) of our patient. Conclusions This is the first report of CHILD syndrome ever reported in Greece. We suggest that the diagnosis of the syndrome is important for patient information and genetic counselling.     

A pediatric case of generalized lichen aureus

Lichen aureus is a particularly rare subtype of pigmented purpuric dermatosis and is characterized by the sudden appearance of golden or rust‐colored macules or needle‐tip‐sized flat papules (concentrated in one region to form lichenoid papules) on the lower limbs. These skin lesions are usually confined to an isolated, unilateral distribution, and linear segmental distribution is rare. In this report, we have documented one such case, where the lesions on the limb were arranged in strips (segmental distribution) that roughly followed the direction of the venous drainage. And the first attack and subsequent aggravation were both associated with the onset of allergic rhinitis, a Type I hypersensitivity.     

The keystone flap and its simplified version for malignant skin tumor defects of the lower limbs: A review of 25 cases

BackgroundSkin tumors commonly occur on the legs and are treated in first line by surgery. Several techniques are available to repair lower limb defects: secondary-intention healing, partial closure, primary closure with or without an s-plasty, or a skin graft. The lack of tissue laxity of the surrounding skin does not allow several local flaps (advancement, rotation, or transposition). Closing large skin defects at this site may be challenging.Patients and methodsWe retrospectively reviewed a series of consecutive patients undergoing malignant tumor wide excision on lower limbs, with a keystone flap or its simplified technique (releasing incision) for closure of a skin defect.ResultsTwenty-five patients, 17 women and 8 men, ranging from 19 to 95 years old (mean age: 70 years) were included. Keystone flap reconstruction on the lower limbs was performed in 19 cases and the simplified technique in 6. The excised tumors were as follows: squamous cell carcinoma (n = 6), basal cell carcinoma (n = 9), melanoma (n = 9) and Bowen's disease (n = 1). Three local complications were observed. No cases of recurrence were observed.ConclusionKeystone flap is a reliable surgical method for reconstruction of lower limb skin defects. Aesthetic results are better than when a skin graft is used, complications are uncommon, and prolonged operative time is avoided.     

Incontinentia pigmenti in a male (XY) infant with long‐term follow up over 8 years

Incontinentia pigmenti (IP) is an X‐linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)‐κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF‐κB. Over 80% of female patients with IP carry a common deletion mutation involving exons 4–10 of the IKBKG/NEMO gene. We present the case of a male infant (XY) with IP with no concomitant complications. Polymerase chain reaction (PCR) assay showed that the exon 4–10 deletion band was significantly stronger in the skin sample than in blood. Subsequently, long‐range PCR was performed periodically to confirm the spontaneous regression of mutant cells from his blood. Over a period of 6 years, the 2.6‐kb mutant band gradually became weaker, but we did not confirm complete regression. Our patient was a healthy, 8‐year‐old male child with no complications despite the presence of a 2.6‐kb mutant band in his blood. Further follow up is necessary to assess for complications that may develop later.     

Leprosy treatment during pregnancy and breastfeeding: A case report and brief review of literature

Leprosy is a chronic disease which primarily affects the skin, mucous membranes and peripheral nerves due to Mycobacterium leprae. It is now infrequent in Europe and is rarely reported during pregnancy. Leprosy can be exacerbated during pregnancy, and without treatment it can permanently damage the skin, nerves, limbs and eyes. Therefore, it is important to treat leprosy during pregnancy. This article describes a patient with multibacillary lepromatous leprosy who was treated with multidrug therapy during pregnancy and breastfeeding. The patient delivered a healthy baby girl without perinatal complications, and the infant's growth and development were normal during the 1‐year follow‐up period. Multidrug therapy consisting of dapsone, rifampicine, and clofazimine is highly effective for people with leprosy and considered safe, both for the mother and the child. Antileprosy drugs are excreted into human milk but there is no report of adverse effects except for skin discoloration of the infant due to clofazimine. Multidrug therapy for leprosy patients should be continued unchanged during pregnancy and breastfeeding.     

Heel‐Line Hyperpigmentation: A Variant of Sock‐Line Hyperpigmentation After the Use of Heel‐Length Socks

Two infants developed hyperpigmented curvilinear patches on the posterior heel after wearing heel‐length socks. Both of the patient's lesions improved after discontinuing the use of the heel‐length socks. Hyperpigmented patches called sock‐line or mitten‐line hyperpigmentation have been reported at sites of tight elastic bands from socks or mittens in infants on the calves and wrists. Recognizing this clinical entity is important to differentiate it from other causes of linear lesions such as child abuse or amniotic band syndrome.     

Epidermolysis bullosa simplex with mottled pigmentation

A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non-scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. Histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.     

Sexual precocity in hypomelanosis of Ito: mosaicism-associated case report and literature review

Background Hypomelanosis of Ito (HI), a neurocutaneous disorder characterized by hypopigmented skin lesions along Blaschko’s line with multiple accompanying diseases, may occasionally present with sexual precocity. Methods We reviewed cases of HI with sexual precocity reported in the literature and focused on collecting information on other associated organ abnormalities, chromosomal karyotype, and type of sexual precocity. We also present our own case report. Results Five children with sexual precocity in HI were studied. All patients were full‐term females without significant family history. Their ages ranged from three years to 11 years. Skin lesions involved the trunk and limbs. Developmental delay was present in all patients. Central nervous system involvement was found in four patients. Craniofacial abnormalities were present in four patients. Eye involvement was present in two patients. Limb abnormalities (brachydactyly and clinodactyly) were present in two patients. Skeletal organ involvement was present in three patients. Other skin lesions were present in three patients. Dental abnormalities occurred in one patient. Of the five patients, four demonstrated a peripheral type of sexual precocity, and one presented with central type sexual precocity. Vaginal bleeding was present in two patients. Chromosomal karyotype abnormalities were found in two patients, and mosaicism was present in one of these. Conclusions Hypomelanosis of Ito is a syndrome characterized by cutaneous signs frequently associated with nervous, ocular, and musculoskeletal system abnormalities. Although it is rarely reported in conjunction with HI, physicians should recognize sexual precocity as a possible associated symptom.     

Effect of early and late mobilisation on split skin graft outcome

Background: There is an increasing trend towards early mobilisation post‐split skin grafting of the lower limbs. This study was performed to determine if early mobilisation impacts negatively on graft healing and patient morbidity. Methods: A retrospective review of 48 cases of lower limb split skin grafts performed by the plastic surgery department at Royal Perth Hospital was undertaken. Patients were stratified into early and late mobilisation groups. Results: No difference in outcome was identified with early mobilisation, but an increased rate of deconditioning with increased length of stay was present with late mobilisation. Conclusion: These results suggest that early mobilisation post‐split skin grafting of the lower limb is beneficial to patient care and is associated with lower morbidity.     

Double immunofluorescence microscopy: a method for localizing immune deposits in skin diseases associated with linear basement membrane zone immunofluorescence

Direct immunofluorescence microscopy has shown that a linear pattern of immunoglobulin and/or complement deposition at the cutaneous basement membrane zone is a characteristic feature in a number of acquired bullous diseases and is occasionally observed in systemic lupus erythematosus. Immunoelectron microscopy has shown the linear pattern of immunofluorescence may be produced by immune deposits located either above the basal lamina (in the lamina lucida) or below the basal lamina (in the upper dermis). Distinguishing between these sites of immune reactant deposition may be of value in differential diagnosis. In this study we report a double immunofluorescent method by which skin biopsies with linear IgG immunofluorescence due to deposits above the basal lamina (bullous pemphigoid) could be distinguished from biopsies with deposits beneath the basal lamina (bullous systemic lupus erythematosus and epidermolysis bullosa acquisita). When skin sections were treated sequentially with rhodamine-labeled anti-human IgG followed by fluorescein-labeled antilamina lucida (pemphigoid) antibody and examined by fluorescence microscopy, the following results were obtained. In biopsies with IgG deposits in the lamina lucida, a single green fluorescent band was observed. In tissues with subbasal lamina deposits, either parallel and contiguous bands of green and yellow-orange fluorescence or a single band of yellow-orange fluorescence was observed. The method is simpler, quicker, and less expensive than immunoelectron microscopy and should be a useful technique for evaluating skin diseases with linear immunofluorescence at the basement membrane zone.     

Chronic nonhealing ulcer in a finger of a toddler--a rare presentation of the hair thread tourniquet syndrome

Background Hair‐thread tourniquet syndrome is caused by a strand of hair or thread tightly wrapped around an appendage. Affected parts include toes, phallus, fingers, clitoris, labia and even uvula. This disorder can be quite serious if not promptly recognized and treated; permanent tissue damage or even loss of the appendage can occur. Material A rare and delayed presentation of hair‐thread tourniquet syndrome as a non‐healing, discharging ulcer in a two‐year‐old child is presented. Results Identification of the fiber with loupes, complete removal of the fiber, and a dorsal longitudinal incision made to ensure complete release of any fibrotic constriction bands were the components of successful management in this child. Conclusions Successful treatment depends on prompt recognition of the problem and alleviation of constriction, be it simple removal of the offending agent or surgical exploration and release. Medical professionals caring for children and parents should be made aware of the signs and symptoms of this rare but dangerous condition to ensure early diagnosis and prompt appropriate management.     

Pityriasis lichenoides in an Asian population

Background There are few studies comparing pityriasis lichenoides (PL) in adults and children, with fewer involving Asians. We compared the clinical profile and treatment outcomes of 10 adults and five children diagnosed with PL. Methods We retrospectively reviewed a series of patients diagnosed with PL at our hospital from 2002 to 2008. Results We identified 10 adults and five children (nine adults and four children with pityriasis lichenoides chronica; one adult and one child with pityriasis lichenoides et varioliformis acuta). Mean age of onset of disease was 42.2 years in adults and 12.2 years in children. Median duration of disease before presentation was 5.5 months in adults and 6 months in children. Trunk and limbs were the most common sites of involvement. Itch was present in the majority. Almost all patients did not respond to topical corticosteroids. A good response was seen in three adults and two children treated with oral antibiotics. Three adults and two children responded to treatment with narrow‐band ultraviolet B phototherapy. The median time to resolution was 8 months in adults and 21 months in children. Postinflammatory dyspigmentation was seen in six adults and four children. Conclusion PL presents similarly in adults and children; however, it runs a longer course in children. In our series, postinflammatory hyperpigmentation was common, which may be explained by our patients’ darker skin phototypes. We routinely prescribe oral antibiotics initially in patients without contraindications. Phototherapy may be useful in patients not responding to antibiotics.     

Extensive skin calcifications in an infant with chronic renal failure: metastatic calcinosis cutis

Calcinosis cutis, one of the rare manifestations of systemic calcinosis, is characterized by the deposition of calcium and phosphate salts in the skin. Metastatic calcinosis, usually a late complication of chronic renal failure, arises from increased calcium or phosphate levels in the serum or both. Both sexes and all ages may be affected; however, cutaneous involvement is uncommon, particularly in children. We present the youngest patient, to our knowledge, with end-stage renal disease and cutaneous metastatic calcification resulting from secondary hyperparathyroidism. A 2-month-old infant presented to the pediatric service with anuria and uremia. A renal biopsy specimen showed chronic tubulo-interstitial nephritis. Indurated, firm, tender reddish papules were localized to both lower limbs, and extensive irregular nodules and plaques with ulceration and white stony contents were localized to the right upper limb. Topical antibiotic ointment was applied to the skin lesions to prevent secondary infection. However, acute peritonitis developed during peritoneal dialysis, and death occurred as a result of sepsis.     

Drug-induced hypersensitivity syndrome in a premature infant

Fever, skin reactions, and limb edema because of drug-induced hypersensitivity have been reported in children because of various drugs, mainly aromatic antiepileptic drugs such as phenytoin, phenobarbital, carbamazepin, and primidone. The skin reactions differ in severity and range from mild maculopapular erythema to exfoliative dermatitis. They have been described in older children but have not been reported in newborn infants. We report a premature newborn infant who developed fever, skin reactions, and edema because of phenytoin while receiving anticonvulsant therapy.     

Orthopedic complications of linear morphea: Implications for early interdisciplinary care

Linear morphea of the limb primarily affects children, and extracutaneous manifestations are common. Orthopedic surgeons are often essential in the care of patients with linear morphea, yet there are few reports outlining specific orthopedic complications in this population. We sought to improve the understanding of orthopedic complications in linear morphea of the limb. Between 1999 and 2014, 51 children were evaluated for linear morphea of an extremity. Twenty‐six (51%) had documented orthopedic manifestations. Outcome measures included limb length discrepancy, angular malalignment, limb atrophy, and orthopedic surgical intervention. Joint contractures were most common, affecting 88% of patients, followed by limb atrophy, angular deformity, and limb length discrepancy; 14% required surgical intervention. Despite the use of systemic immunosuppressive therapy in many patients, approximately half of patients with linear morphea of an extremity have orthopedic disease. Early orthopedist involvement is crucial to improve limb alignment and preserve function.     

Mitten‐Line Hyperpigmentation: A Reactive Process Analogous to Sock‐Line Hyperpigmentation

Abstract: A 3‐month‐old girl presented with a 6‐week history of a curvilinear hyperpigmented patch on the left wrist, which began within a day of using a tight mitten. Mitten‐line hyperpigmentation is analogous to the recently described condition known as infantile “sock‐line hyperpigmentation,” or more generally “sock‐line bands.” Distinguishing this benign condition from child abuse, amniotic band syndrome, and acquired raised bands of infancy is important but sometimes challenging.