Aplasia cutis is a congenital absence of the skin, usually presenting on the scalp. In 20% of all cases, part of the skull is also absent. A residual area of baldness may still be present some years after surgical or conservative treatment. [ncbi.nlm.nih.gov]

• Blue Sclera

  Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?. Clin Dysmorphol. 2001 Jan. 10(1):69-70. [Medline]. [emedicine.medscape.com]

• Hyperpigmentation

  In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of hyperpigmentation on the legs and hypoplastic maxillary. We think that these signs are probably due to mosaic mutations in PORCN. [ncbi.nlm.nih.gov]

  The wounds healed within 14 days of admission, with only a little hyperpigmentation ( Fig. 2 ). Discussion ACC is a rare condition with an underlying mechanism that remains to be fully elucidated. [spandidos-publications.com]

Pediatric workup ruled out any other malformations or genetic disorders. All patients were treated by conservative wound and skin care without complications. In one case the formation of milia has been observed - an outcome not described before. [ncbi.nlm.nih.gov]

Early central nervous system imaging and other workup may be required, especially if plastic surgery in the head region is being planned. [jamanetwork.com]

[…] disruption complex, • oculocerebrocutaneous (Delleman) syndrome, • scalp-ear-nipple syndrome (Finlay-Mark syndrome), • Kabuki syndrome, • 46XY gonadal dysgenesis AD: autosomal dominant; AR: autosomal recessive We recommend the following procedure for ACC workups [scielo.br]

• Ischemic Changes

  The newborn had multifocal aplasia cutis congenita involving the head, trunk, and limbs with cerebral ischemic changes demonstrated by imaging. The newborn had a monochorionic twin fetus papyraceus. The array cytogenetic analysis was normal. [ncbi.nlm.nih.gov]

[…] by conservative treatment with application of acellular dermal matrix. [ncbi.nlm.nih.gov]

Treatment is often conservative, but more aggressive treatment may be indicated for some larger scalp lesions. [mayoclinic.pure.elsevier.com]

Treatment for ACC varies depending on the condition of the infant ( 5 ), although conservative treatment is the most popular regimen. [spandidos-publications.com]

The authors also present a practical, treatment-oriented classification that could assist physicians in estimating the severity and therefore prognosis of the disease and offer a treatment guideline. [ncbi.nlm.nih.gov]

Prognosis Less severe cases usually resolve within weeks to months, but alopecia persists. Underlying or associated defects may significantly affect mortality and morbidity. [orpha.net]

It has good prognosis if proper medical management is done and if not associated with any other anomalies. [medicalsciencejournal.com]

The aim of the present report is to increase awareness of these skin defects and emphasize the importance of underlying etiologies. [ncbi.nlm.nih.gov]

Etiology Etiology is manifold; genetic factors, teratogens, amniotic adhesion, vascular anomalies, pharmacological agents (e.g. methimazole, benzodiazepines), intrauterine trauma and infections have all been implicated. [orpha.net]

OBJECTIVE: To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series. METHODS: We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC. [ncbi.nlm.nih.gov]

Summary Epidemiology Incidence is approximately 1/10,000 births. Clinical description ACC is noticed immediately at birth and usually presents as a solitary lesion on or near the vertex. [orpha.net]

Epidemiology Incidence : 0.03% of newborns III. Pathophysiology Congenital absence of skin Embryo nic defect present in a small subset of patients IV. Signs Bulla, ulceration or atrophic lesion V. [fpnotebook.com]

Pathophysiology Congenital absence of skin Embryo nic defect present in a small subset of patients IV. Signs Bulla, ulceration or atrophic lesion V. Distribution Most often at the scalp near the vertex VI. [fpnotebook.com]

The pathophysiology of ACC is not completely understood, although intrauterine trauma, vascular compromise, infection, and teratogenic medications have all been implicated. A few reports describing a familial occurrence (1). 2. [article.sciencepublishinggroup.com]

Etiology Pathophysiology The exact pathophysiology for ACC remains a mystery. However, various theories have been proposed, including intrauterine trauma, vascular compromise, teratogens such as infectious agents, and medications. [clinicaladvisor.com]

A primarily conservative treatment with local wet and antibiotic dressings together with a systemic antibiotic treatment for the first 2 wk led to an excellent result and thus prevented untimely operative and peri-operative procedures. [ncbi.nlm.nih.gov]

In these cases, infection of the unhealed lesion should be prevented by keeping the area clean. If infection does occur, antibiotics may be used in treatment. In cases of deep or multiple lesions, surgical repair may be required. [ozarkderm.com]